The ABCD1 Variant Database
The ABCD1 Variant Database reports all variants according to the nomenclature recommended by the Human Genome Variation Society. All variants, including those published in the past, are annotated using AlamutVisualPlus software. The reference sequence is the NM_000033.3 transcript on GRCh37 (hg19). The ABCD1 Variant Database is a community-driven project. Its strength lies in its collaborative nature, with diagnostic laboratories, researchers and physicians able to contribute new variants and updates on pathogenicity. If you use the ABCD1 Variant Database as a reference guide, please share ABCD1 variants and/or pathogenicity updates with the ABCD1 Variant Database. This will help us to provide continuous updates. Your contribution will be acknowledged.
Since ABCD1 pathogenic variants have no predictive value for the clinical outcome of an individual patient, no phenotypic information is provided. Instead, we report cases. An ALD case is defined as an individual diagnosed with clinical signs and symptoms associated with ALD (adrenal disease, myeloneuropathy, and/or cerebral ALD) with biochemical and genetic confirmation. Where available in the scientific literature, experimental data supporting the pathogenicity of a particular variant were extracted.
| Chromosome position | Variant | Consequence | Exon | Remark |
|---|---|---|---|---|
| 152990663 | c.-59C>T | 5′ UTR | Benign, based on frequency of 11/150 (48) and 118367/1049925 in non-ALD alleles (323). | |
| 152990698 | c.-24_57delinsA | p.0? (no translation initiation) | 5′ UTR | Likely pathogenic, identified in a single ALD case (33). |
| 152990700 | c.-22C>T | p.0? upstream ATG (out of frame) |
5′ UTR | Pathogenic, identified in a single ALD case (32). Affects ALDP stability in patient cells (32). |
| 152990702 | c.-20C>T | 5′ UTR | Benign, based on frequency of 54/7419 in South Asian non-ALD alleles (323). | |
| 152990705 | c.-17_8del | p.0? (no translation initiation) | 5′ UTR | Pathogenic, identified in 21 ALD cases (extensive pedigree analysis (45)). No detectable ALDP in patient cells (45). |
| 152990706 | c.-16_10del | p.0? (no translation initiation) | 5′ UTR | Likely pathogenic, identified in a single ALD case (266). |
| 152990712 | c.-10C>T | 5′ UTR | Benign, based on frequency 43/1129835 non-ALD alleles (323). | |
| 152990718 | c.-4_5delins10 | p.? | 5′ UTR / exon 1 | Likely pathogenic, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152990722 | c.1A>G | p.Met1Val (no translation initiation) |
exon 1 | Pathogenic, identified in 26 ALD cases (32, 102, 139, 141, 218, 245, 266). No detectable ALDP in patient cells (102, 139, 141, 290). |
| 152990722 | c.1A>T | p.Met1Val (no translation initiation) |
exon 1 | Pathogenic, identified in a single ALD case (160), same consequence as pathogenic variant c.1A>G. |
| 152990723 | c.2T>A | p.Met1Lys (no translation initiation) |
exon 1 | Pathogenic, identified in 5 ALD cases (58). No detectable ALDP in patient cells (58). |
| 152990724 | c.3_19dup | p.Pro7Argfs*15 | exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152990724 | c.3G>A | p.Met1Ile (no translation initiation) |
exon 1 | Pathogenic, identified in 2 ALD cases (33, 325). |
| 152990724 | c.3G>C | p.Met1Ile (no translation initiation) |
exon 1 | Pathogenic, identified in a single ALD case (73), same consequence as pathogenic variant c.3G>C. |
| 152990724 | c.3G>T | p.Met1Ile (no translation initiation) |
exon 1 | Pathogenic, identified in ALD newborn screening (274), same consequence as pathogenic variant c.3G>C. |
| 152990730 | c.9del | p.Leu4Serfs*12 | exon 1 | Pathogenic, identified in ALD newborn screening (295). Deleterious mutation. |
| 152990731 | c.10dup | p.Leu4Profs*191 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990737 | c.16del | p.Arg6Glyfs*10 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990737 | c.16_22delinsCT | p.Arg6Leufs*187 | exon 1 | Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation. |
| 152990742 | c.21_64del | p.Arg8Glyfs*172 | exon 1 | Pathogenic, identified in ALD newborn screening (274). Deleterious mutation. |
| 152990750 | c.29G>A | p.Trp10* | exon 1 | Pathogenic, 2 ClinVar entries, but no clinical info presented, but deleterious mutation (266). |
| 152990751 | c.30G>A | p.Trp10* | exon 1 | Pathogenic, identified in 4 ALD cases (7, 58, 266). No detectable ALDP in patient cells (7). |
| 152990751 | c.30G>C | p.Trp10Cys | exon 1 | Benign, based on frequency 36/1145591 in non-ALD alleles (323). |
| 152990752 | c.31C>G | p.Arg11Gly | exon 1 | Likely benign, based on frequency 11/503193 in non-ALD alleles (323). |
| 152990752 | c.31_46del | p.Arg11Serfs*52 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990757 | c.36del | p.Asn13Thrfs*3 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152990757 | c.36dupG | p.Asn13Glufs*182 | exon 1 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 152990759 | c.38A>C | p.Asn13Thr | exon 1 | Benign based on frequency 3023/1146578 in non-ALD alleles (323), confirmed by biochemical testing (48). |
| 152990761 | c.40A>G | p.Thr14Ala | exon 1 | Benign, based on frequency 57/1147099 in non-ALD alleles (323). |
| 152990762 | c.41C>G | p.Thr14Arg | exon 1 | Benign, based on 711/1148054 in non-ALD alleles (323). |
| 152990767 | c.[46A>T; 706C>T] | p.[Lys16*; Arg236Cys] | exon 1 | Pathogenic, identified in 2 ALD cases (33). p.Lys16* is a deleterious mutation. Clinical significance of p.Arg236Cys is unclear. |
| 152990771 | c.50G>A | p.Arg17His | exon 1 | Benign, based on 135/1149123 in non-ALD alleles (323), confirmed by biochemical testing (139). |
| 152990772 | c.51_54dup | p.Ala19Hisfs*177 | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152990774 | c.53C>T | p.Thr18Met | exon 1 | Benign variant confirmed by biochemical testing (320) normal C26:0-LPC in plasma |
| 152990776 | c.55G>T | p.Ala19Ser | exon 1 | Benign variant, based on 13/1151029 in non-ALD alleles (323) and confirmed by biochemical testing (104). |
| 152990778 | c.57del | p.Val20Cysfs*48 | exon 1 | Pathogenic, identified in a single ALD case (16). No detectable ALDP in patient cells (146). |
| 152990788 | c.67_83del | p.Ala23Serfs*166 | exon 1 | Pathogenic, identified in a single ALD case (71). Deleterious mutation. |
| 152990791 | c.70del | p.Leu24Serfs*44 | exon 1 | Pathogenic, identified in 2 ALD cases (266, 289). Deleterious mutation. |
| 152990801 | c.80A>C | p.Tyr27Ser | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. Variant not present in unaffected male family member. |
| 152990802 | c.81T>G | p.Tyr27* | exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152990809 | c.88dup | p.His30Profs*165 | exon 1 | Pathogenic, identified in 2 ALD cases (189). Deleterious mutation. |
| 152990813 | c.92A>G | p.Lys31Arg | exon 1 | Likely benign, based on frequency 13/396907 in non-ALD alleles (323). |
| 152990815 | c.94_95dup | p.Tyr33Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990816 | c.95del | p.Val32Alafs*36 | exon 1 | Pathogenic, identified in a single ALD case (283). Deleterious mutation. |
| 152990817 | c.96_97del | p.Tyr33Profs*161 | exon 1 | Pathogenic, identified in a single ALD case (257). Deleterious mutation. |
| 152990818 | c.97T>G | p.Tyr33Asp | Exon 1 | VUS, identified in ALD newborn screening (334), but has not yet been associated with disease. |
| 152990818 | c.97_100del | p.Tyr33Profs*34 | exon 1 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 152990820 | c.99C>A | p.Tyr33* | exon 1 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 152990820 | c.99_102del | p.Pro34Trpfs*33 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152990821 | c.100C>T | p.Pro34Ser | exon 1 | Benign, based on frequency 106/1149102 in non-ALD alleles (323). |
| 152990823 | c.102del | p.Leu35Trpfs*33 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990823 | c.102dup | p.Val36Glyfs*159 | exon 1 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 152990823 | c.102delinsAT | p.Leu35Phefs*160 | exon 1 | Pathogenic, identified in a single ALD case (24). Deleterious mutation. |
| 152990825 | c.104del | p.Leu35Trpfs*33 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990831 | c.110_17del | p.Arg37Profs*155 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 72). Deleterious mutation. |
| 152990833 | c.112C>T | p.Gln38* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990836 | c.115_31delinsGCA | p.Cys39Lysfs*151 | exon 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP in patient cells (60). |
| 152990840 | c.119_47del | p.Leu40Argfs*145 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152990842 | c.121del | p.Ala41Profs*27 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152990846 | c.125delC | p.Pro42Argfs*26 | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152990846 | c.125_26insC | p.Ala43Glyfs*152 | exon 1 | Pathogenic, identified in 3 ALD cases (33, 49). Deleterious mutation. |
| 152990854 | c.133G>A | p.Gly45Ser | exon 1 | Benign, based on frequency 31/1031606 in non-ALD alleles (323). |
| 152990859 | c.138_39insT | p.Gln47Serfs*148 | exon 1 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. |
| 152990860 | c.139C>T | p.Gln47* | exon 1 | Pathogenic, identified in 6 ALD cases (33, 58, 105, 225, 274). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152990860 | c.139del | p.Gln47Argfs*21 | exon 1 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 152990864 | c.143C>T | p.Ala48Val | exon 1 | Benign, based on frequency 67/1144691 in non-ALD alleles (323). |
| 152990864 | c.143_155delinsAG | p.Ala48Glufs*143 | exon 1 | Pathogenic, identified in 3 ALD cases (200, 250). Deleterious mutation. |
| 152990867 | c.146_159del | p.Pro49Hisfs*141 | exon 1 | Pathogenic, identified in 2 ALD cases (266, 328). Deleterious mutation. |
| 152990871 | c.150dup | p.Gly51Argfs*144 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152990875 | c.154G>T | p.Glu52* | exon 1 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152990875 | c.154dup | p.Glu52Glyfs*143 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990876 | c.155_56insG | p.Pro53Alafs*142 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990881 | c.160_170del | p.Thr54Leufs*137 | exon 1 | Pathogenic, identified in a single ALD case (311). Deleterious mutation. |
| 152990882 | c.161C>T | p.Thr54Met | exon 1 | Benign, based on frequency 40/1041069 in non-ALD alleles (323). |
| 152990884 | c.163C>T | p.Gln55* | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152990894 | c.173C>T | p.Ser58Phe | exon 1 | Likely benign, based on frequency 13/1047600 in non-ALD alleles (323). |
| 152990902 | c.181G>A | p.Ala61Thr | exon 1 | Benign, based on frequency 46/1162955 in non-ALD alleles (323). |
| 152990920 | c.199A>G | p.Met67Val | exon 1 | Benign, based on frequency 24/1170906 in non-ALD alleles (323). |
| 152990926 | c.205delC | p.Arg69Glyfs*34 | exon 1 | Pathogenic, identified in a single ALD case (273). Deleterious mutation. |
| 152990929 | c.208G>C | p.Val70Leu | exon 1 | Likely benign, based on frequency 13/1059911 in non-ALD alleles (323). |
| 152990938 | c.217C>T | p.Gln73* | exon 1 | Pathogenic, identified in 3 ALD cases (220, 311). Deleterious mutation. |
| 152990941 | c.220C>T | p.Arg74Trp | exon 1 | Pathogenic, identified in 11 ALD cases (32, 88, 97, 141, 245, 290). Reduced (7% of control cells) ALDP in patient cells (97). |
| 152990942 | c.221G>A | p.Arg74Gln | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990944 | c.223_40dup | p.Trp77_Leu82dup | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152990946 | c.225_42del | p.Trp77_Leu82del | exon 1 | Pathogenic, identified in 5 ALD cases (58, 111, 191, 315). No detectable ALDP in patient cells (58). |
| 152990950 | c.229_237delTGGCTCCTG | p.Trp77_Leu79del | exon 1 | Pathogenic, identified in 3 ALD cases (284, 307) and 3 times in ALD newborn screening (274, 284, 294). |
| 152990950 | c.229_237dup | p.Trp77_Leu79dup | exon 1 | Likely pathogenic, identified in a single ALD case (306). |
| 152990952 | c.231G>A | p.Trp77* | exon 1 | Pathogenic, idenitified in 4 ALD cases (201). Deleterious mutation. |
| 152990953 | c.232_40del | p.Arg80_Leu82del | exon 1 | Pathogenic, identified in 2 ALD cases (38, 58). No detectable ALDP in patient cells (58). |
| 152990955 | c.234_42del | p.Arg80_Leu82del | exon 1 | Pathogenic, identified in 8 ALD cases (33, 200, 267, 328) and in ALD NBS (274). Deleterious mutation. |
| 152990955 | c.234_42dupCCTGCGGCT | p.Arg80_Leu82dup | exon 1 | Pathogenic, identified in 5 ALD cases (33, 186). Deleterious mutation. |
| 152990959 | c.238C>T | p.Arg80Trp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990961 | c.240_41insTTTGCG | p.Arg80_Leu81insPheAla | exon 1 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 152990961 | c.240_41insTCCTGCGGC | p.Arg80_Leu81insSerCysGly | exon 1 | Pathogenic, identified in 2 ALD cases (64, 132). Deleterious mutation. |
| 152990964 | c.244_245insCTGCGGCTC | p.Leu81_Leu82insProAlaAla | exon 1 | Pathogenic, identified in 4 ALD cases (28, 33). Deleterious mutation. (Originally reported as: c.243-44insCCTGCGGCT) |
| 152990966 | c.245T>C | p.Leu82Pro | Exon 1 | Variant of uncertain significance (VUS), identified in ALD newborn screening (334), but has not yet been associated with disease. |
| 152990969 | c.248del | p.Phe83Serfs*20 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152990971 | c.250C>T | p.Pro84Ser | exon 1 | Likely pathogenic, identified in a single ALD case (90). |
| 152990972 | c.251C>T | p.Pro84Leu | exon 1 | Pathogenic, identified in 6 ALD cases (33, 191, 220, 292). |
| 152990974 | c.253C>T | p.Arg85Trp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990974 | c.253dup | p.Arg85Profs*110 | exon 1 | Pathogenic, identified in 24 ALD cases (33, 49, 60, 62, 119, 138, 155, 253, 266, 274, 302, 312, 315, 338). No detectable ALDP in patient cells (60). |
| 152990974 | c.253del | p.Arg85Glyfs*18 | exon 1 | Pathogenic, identified in 4 ALD cases (58, 267, 314). Deleterious mutation. |
| 152990975 | c.254G>C | p.Arg85Pro | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152990975 | c.254_900+760del | p.Val86Glyfs*99 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152990977 | c.256dup | p.Val86Glyfs*109 | exon 1 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 152990978 | c.257_268dup | p.Val86_Arg89dup | exon 1 | Pathogenic, identified in a single ALD case (223). Deleterious mutation. |
| 152990983 | c.262T>C | p.Cys88Arg | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152990984 | c.263G>T | p.Cys88Phe | exon 1 | VUS, identified in ALD newborn screening (309), but has not yet been associated with disease. |
| 152990985 | c.264C>A | p.Cys88* | exon 1 | Pathogenic, identified in 2 ALD cases (33, 294). Deleterious mutation. |
| 152990986 | c.265C>T | p.Arg89Trp | exon 1 | Likely benign, based on frequency 14/1170416 in non-ALD alleles (323). |
| 152990987 | c.266G>A | p.Arg89Gln | exon 1 | Likely benign, based on frequency 15/1170156 in non-ALD alleles (323). |
| 152990989 | c.268G>T | p.Glu90* | exon 1 | Pathogenic, identified in a single ALD case (141). No detectable ALDP in patient cells (141). |
| 152990989 | c.268del | p.Glu90Argfs*13 | exon 1 | Pathogenic, identified in a single ALD case (279). Deleterious mutation. |
| 152990990 | c.269_273dup | p.Gly92Argfs*13 | Exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152990991 | c.270_71del | p.Glu90Aspfs*104 | exon 1 | Pathogenic, identified in 2 ALD cases (93). Deleterious mutation. |
| 152990995 | c.274_311del | p.Gly92Hisfs*90 | exon 1 | Pathogenic, identified in 3 ALD cases (4, 158). Deleterious mutation. |
| 152990995 | c.274G>A | p.Gly92Arg | exon 1 | Benign variant based on its frequency of 219/1174929 in non-ALD alleles (323). |
| 152990996 | c.275G>T | p.Gly92Val | exon 1 | Likely benign, based on its frequency of 16/1175506 in non-ALD alleles (323). |
| 152990997 | c.276delG | p.Leu93Cysfs*10 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation |
| 152990998 | c.277del | p.Leu93Cysfs*10 | exon 1 | Pathogenic, identified in a single ALD case (16). Deleterious mutation. |
| 152990998 | c.277_96dup | p.Ala100Cysfs*10 | exon 1 | Pathogenic, identified in 2 ALD cases (111, 149). Deleterious mutation. |
| 152991001 | c.280_81insGAGACGGGGCTG | p.Leu94delinsArgAspGlyAlaVal | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991004 | c.283_284ins9 | p.Ala95fs*11 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991005 | c.284C>A | p.Ala95Asp | exon 1 | Pathogenic, identified in 6 ALD cases. No detectable ALDP in patient cells (109). |
| 152991008 | c.287_88insCC | p.His97Argfs*7 | exon 1 | Pathogenic, identified in a single ALD case (40). Deleterious mutation. |
| 152991011 | c.290A>C | p.His97Pro | exon 1 | Pathogenic, identified in 6 ALD cases (33, 142, 170, 216, 266). |
| 152991011 | c.290A>T | p.His97Leu | exon 1 | Benign, confirmed by biochemical testing (109). |
| 152991013 | c.292T>C | p.Ser98Pro | exon 1 | Pathogenic, identified in a single ALD case (58). Reduced ALDP in patient cells (58). |
| 152991014 | c.293C>A | p.Ser98* | exon 1 | Pathogenic, identified in 7 ALD cases (32, 105, 217, 318). Deleterious mutation. |
| 152991014 | c.293C>T | p.Ser98Leu | exon 1 | Pathogenic, identified in 19 ALD cases (7, 33, 48, 49, 58, 98, 243, 265, 284, 299, 316). Normal ALDP level in patient cells (7), but non-functional. |
| 152991014 | c.293C>G | p.Ser98Trp | exon 1 | Pathogenic, identified in 3 ALD cases (41). |
| 152991015 | c.294_95insC | p.Ala99Argfs*96 | exon 1 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152991016 | c.295_98dup | p.Ala100Glyfs*96 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991017 | c.296C>A | p.Ala99Asp | exon 1 | Likely pathogenic, identified in a single ALD case (48). |
| 152991019 | c.298del | p.Ala100Profs*3 | exon 1 | Pathogenic, identified in a single ALD case (28). Deleterious mutation. |
| 152991022 | c.301T>A | p.Leu101Met | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991026 | c.305T>A | p.Val102Glu | exon 1 | Likely pathogenic, identified in a single ALD case (60). |
| 152991030 | c.309C>G | p.Ser103Arg | exon 1 | Pathogenic, identified in 2 ALD cases (29, 53). Reduced ALDP in patient cells (53). |
| 152991031 | c.310C>T | p.Arg104Cys | exon 1 | Pathogenic, identified in 24 ALD cases (13, 16, 33, 42, 62, 97, 125, 146, 191, 274, 289, 292, 319, 325, 328). Reduced ALDP (below 30% of control cells) in patient cells (97, 146, 325) and deficient beta-oxidation (261). |
| 152991032 | c.311G>A | p.Arg104His | exon 1 | Pathogenic, identified in 15 ALD cases (4, 32, 33, 47, 49, 132, 137, 234, 274, 289, 325, 328). Reduced ALDP (below 30% of control cells) in patient cells (325) |
| 152991032 | c.311G>T | p.Arg104Leu | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991032 | c.311G>C | p.Arg104Pro | exon 1 | Likely pathogenic, identified in a single ALD case (114). |
| 152991034 | c.313A>C | p.Thr105Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 38, 158). |
| 152991034 | c.313A>G | p.Thr105Ala | exon 1 | Likely pathogenic, identified in a single ALD case (292). |
| 152991035 | c.314C>G | p.Thr105Ser | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991035 | c.314C>T | p.Thr105Ile | exon 1 | Likely pathogenic, identified in a single ALD case (7) and 1x in ALD NBS (274). Affects ALDP stability in patient cells (7). |
| 152991039 | c.318C>G | p.Phe106Leu | Exon 1 | VUS, identified in ALD newborn screening (334), but has not yet been associated with disease. |
| 152991040 | c.319del | p.Leu107Cysfs*91 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991041 | c.320T>C | p.Leu107Pro | exon 1 | Pathogenic, identified in 13 ALD cases (15, 178, 214). |
| 152991041 | c.320T>G | p.Leu107Arg | exon 1 | Likely pathogenic, identified in a single ALD case (88). |
| 152991044 | c.323C>A | p.Ser108* | exon 1 | Pathogenic, identified in 4 ALD cases (33, 56, 60, 93). No detectable ALDP in patient cells (60). |
| 152991044 | c.[323C>A; 775C>T] | p.[Ser108*; Arg259Trp] | exon 1 | Pathogenic, identified in a single ALD case (86). p.Ser108* is deleterious. |
| 152991044 | c.323C>T | p.Ser108Leu | exon 1 | Pathogenic, identified in 22 ALD cases (33, 34, 53, 62, 90, 137, 156, 191, 235, 267, 284, 328). Normal ALDP level in patient cells (53), but non-functional. |
| 152991044 | c.323C>G | p.Ser108Trp | exon 1 | Pathogenic, identified in 3 ALD cases (7, 27, 53). Reduced ALDP in patient cells (7). |
| 152991046 | c.325del | p.Val109Cysfs*89 | exon 1 | Pathogenic, identified in 3 ALD cases (32). Deleterious mutation. |
| 152991052 | c.331_351dup | p.Val111_Arg117dup | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991058 | c.337delC | p.Arg113Alafs*85 | exon 1 | Pathogenic, identified in 9 ALD cases (32, 49, 62, 141). No detectable ALDP in patient cells (49, 97, 141). |
| 152991058 | c.337C>T | p.Arg113Cys | exon 1 | Likely pathogenic, identified in a single ALD cases (245). |
| 152991059 | c.338G>C | p.Arg113Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 49). |
| 152991062 | c.341T>C | p.Leu114Pro | exon 1 | Pathogenic, identified in 4 ALD cases (33, 53, 302). Reduced ALDP in patient cells (53). |
| 152991067 | c.346G>T | p.Gly116* | exon 1 | Pathogenic, identified in 3 ALD cases (137, 200). Deleterious mutation. |
| 152991067 | c.346G>A | p.Gly116Arg | exon 1 | Pathogenic, identified in 20 ALD cases (7, 29, 32, 33, 58, 145, 221, 263, 266, 274, 289, 294, 328). Reduced ALDP in patient cells (7) and deficient beta-oxidation (261). Mutation affects protein-protein interaction (262). |
| 152991067 | c.346G>C | p.Gly116Arg | exon 1 | Pathogenic, identified in 4 ALD cases (33, 239, 240, 266). |
| 152991068 | c.347_48delGAinsAT | p.Gly116Asp | exon 1 | Likely pathogenic, identified in a single ALD case (120). |
| 152991068 | c.347G>A | p.Gly116Glu | exon 1 | Pathogenic, identified in 3 ALD cases (57, 87, 88) |
| 152991073 | c.352delCT | p.Leu118Glyfs*76 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991076 | c.355del | p.Ala119Profs*79 | exon 1 | Pathogenic, identified in 2 ALD cases (178). Deleterious mutation. |
| 152991077 | c.356C>A | p.Ala119Asp | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991079 | c.358dup | p.Arg120Profs*75 | exon 1 | Pathogenic, identified in a single ALD case (292). Deleterious mutation. |
| 152991080 | c.359G>A | p.Arg120His | exon 1 | Likely benign, based on frequency 10/1093803 in non-ALD alleles (323). |
| 152991080 | c.359G>C | p.Arg120Pro | exon 1 | Pathogenic, identified in 5 ALD cases (60). Normal ALDP level in patient cells (60), but non-functional. |
| 152991089 | c.368C>T | p.Ala123Val | exon 1 | This was a sequence error in original sequence (18) |
| 152991092 | c.371G>C | p.Arg124Pro | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991096 | c.375_78del | p.Lys125Asnfs*72 | exon 1 | Pathogenic, identified in 2 ALD cases (123, 318). Deleterious mutation. |
| 152991103 | c.382C>T | p.Arg128Trp | exon 1 | Likely benign, based on frequency 9/1096026 in non-ALD alleles (323). |
| 152991106 | c.385dup | p.Ala129Glyfs*66 | exon 1 | Pathogenic, identified in 2 ALD cases (59, 64). Deleterious mutation. |
| 152991108 | c.387del | p.Phe130Leufs*68 | exon 1 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 152991111 | c.390dup | p.Gly131Trpfs*64 | exon 1 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 152991113 | c.392G>T | p.Gly131Val | exon 1 | Benign variant based on its frequency of 50/1209243 in non-ALD alleles (323). |
| 152991116 | c.395G>A | p.Trp132* | exon 1 | Pathogenic, identified in 3 ALD cases (71, 94, 319). Deleterious mutation. |
| 152991117 | c.396G>A | p.Trp132* | exon 1 | Pathogenic, identified in 8 ALD cases (33, 52, 59, 64, 100, 132, 137). Deleterious mutation. |
| 152991118 | c.397C>T | p.Gln133* | exon 1 | Pathogenic, identified in 11 ALD patient (16, 32, 33, 49, 141, 284). No detectable ALDP in patient cells (49, 141). |
| 152991122 | c.401T>G | p.Leu134Arg | exon 1 | Likely pathogenic, identified in a single ALD case (95). |
| 152991122 | c.401_05delinsAGCATT | p.Leu134Glnfs*61 | exon 1 | Pathogenic, identified in a single ALD case (19). Deleterious mutation. |
| 152991127 | c.406C>T | p.Gln136* | exon 1 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 152991128 | c.407_456dup | p.Tyr153Serfs*62 | exon 1 | Pathogenic, identified in a single ALD case (328). Deleterious mutation. |
| 152991128 | c.407_458dup | p.Tyr153* | exon 1 | Pathogenic, identified in a single ALD case (284). Deleterious mutation. |
| 152991129 | c.408del | p.Gln136Hisfs*62 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991131 | c.410G>A | p.Trp137* | exon 1 | Pathogenic, identified in 4 ALD cases (96, 98, 252). Deleterious mutation. |
| 152991132 | c.411G>A | p.Trp137* | exon 1 | Pathogenic, identified in 7 ALD cases (16, 33, 49, 58, 62, 266). No detectable ALDP in patient cells (49, 146). |
| 152991132 | c.411G>T | p.Trp137Cys | exon 1 | Pathogenic, identified in 3 ALD cases (218, 290). No detectable ALDP in patient cells (32). |
| 152991132 | c.411_12insC | p.Leu138Profs*57 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991133 | c.412_23del | p.Leu139_Leu142del | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. |
| 152991133 | c.412_14del | p.Leu139del | exon 1 | Pathogenic, identified in 2 ALD cases (52, 96). |
| 152991140 | c.419_420delinsAT | p.Ile140Asn | Exon 1 | VUS, identified in ALD newborn screening (334), but has not yet been associated with disease. |
| 152991142 | c.421G>A | p.Ala141Thr | exon 1 | Pathogenic, identified in 21 ALD cases (13, 59, 64, 88, 93, 111, 137, 174, 178, 220, 266). |
| 152991143 | c.422C>A | p.Ala141Asp | exon 1 | Pathogenic, identified in 4 ALD cases (224, 273). |
| 152991143 | c.422C>T | p.Ala141Val | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991145 | c.424del | p.Leu142Serfs*56 | exon 1 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 152991148 | c.427C>G | p.Pro143Ala | exon 1 | Pathogenic, identified in 3 ALD cases (98). |
| 152991148 | c.427C>T | p.Pro143Ser | exon 1 | Pathogenic, identified in 6 ALD cases (33, 34, 38, 49, 88, 228). |
| 152991149 | c.428C>A | p.Pro143His | exon 1 | Pathogenic, identified in 2 ALD cases (58, 98). Normal ALDP level in patient cells (58), but non-functional. |
| 152991149 | c.428C>T | p.Pro143Leu | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991153 | c.432_46delinsCCC | p.Thr145_Ser149delinsPro | exon 1 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 152991154 | c.433A>G | p.Thr145Ala | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991157 | c.436T>A | p.Phe146Ile | exon 1 | Benign variant based on its frequency 21/1210720 in non-ALD alleles (323). |
| 152991159 | c.438del | p.Phe146Leufs*52 | exon 1 | Pathogenic, identified in a single case (302). Deleterious mutation. |
| 152991161 | c.442_444delinsTGTTGA | p.Asn148_Thr745delinsCys | exon 1 | Pathogenic, identified in 2 ALD cases (228). Deleterious mutation. |
| 152991163 | c.441_442dup | p.Val147_Asn148insIle | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991163 | c.442A>G | p.Asn148Asp | exon 1 | Pathogenic, identified in 2 ALD cases (32, 86). |
| 152991163 | c.442A>T | p.Asn148Tyr | exon 1 | Likely pathogenic, identified in a single ALD case (60). Normal ALDP level in patient cells (60), but non-functional. |
| 152991164 | c.443A>G | p.Asn148Ser | exon 1 | Pathogenic, identified in 16 ALD cases (7, 8, 24, 33, 38, 60, 93, 98, 158, 192, 252, 266). Normal ALDP level in patient cells (7), but deficient beta-oxidation in patient cells (259). |
| 152991164 | c.443A>T | p.Asn148Ile | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991167 | c.446G>A | p.Ser149Asn | exon 1 | Pathogenic, identified in 22 ALD cases (16, 32, 49, 97, 141, 146, 218). Reduced ALDP expression (77% of control cells) in patient cells (97), and deficient beta-oxidation in patient cells (290). |
| 152991168 | c.447T>A | p.Ser149Arg | exon 1 | Pathogenic, identified in 2 ALD cases (188, 231). Mutation affects targeting of ALDP in cells (188). |
| 152991172 | c.451_460del | p.Ile151Trpfs*44 | Exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152991173 | c.452T>C | p.Ile151Thr | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991175 | c.454C>A | p.Arg152Ser | exon 1 | Pathogenic, identified in 5 ALD cases (29, 33, 49). |
| 152991175 | c.454C>T | p.Arg152Cys | exon 1 | Pathogenic, identified in 21 ALD cases (7, 13, 32, 33, 49, 52, 88, 168, 245, 250, 252, 263, 266, 306, 318). Normal ALDP level in patient cells (7, 32, 49, 52), but non-functional. |
| 152991175 | c.454C>G | p.Arg152Gly | exon 1 | Likely pathogenic, identified in a single ALD case (239). |
| 152991176 | c.455G>A | p.Arg152His | exon 1 | VUS, identified in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/181577 in non-ALD alleles, but has not yet been associated with disease. |
| 152991176 | c.455G>C | p.Arg152Pro | exon 1 | Likely pathogenic, identified in a single ALD case (16). Normal ALDP level in patient cells (32), but non-functional. |
| 152991176 | c.455G>T | p.Arg152Leu | exon 1 | Pathogenic, identified in 6 ALD cases (32, 33, 49, 52, 58). Reduced ALDP expression in patient cells (32, 49). |
| 152991180 | c.459C>G | p.Tyr153* | exon 1 | Pathogenic, identified in 3 ALD cases (306). Deleterious mutation. |
| 152991182 | c.461T>C | p.Leu154Pro | exon 1 | Pathogenic, identified in 3 ALD cases (33, 88). |
| 152991183 | c.462_81del | p.Glu155Valfs*33 | exon 1 | Pathogenic, identified in a single ALD case (44). Deleterious mutation. |
| 152991184 | c.463_474delinsA | p.Glu155Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (315). Deleterious mutation. |
| 152991185 | c.464_465insC | p.Glu155Aspfs*40 | Exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152991188 | c.467G>A | p.Gly156Asp | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991188 | c.467G>T | p.Gly156Val | exon 1 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 152991190 | c.469C>T | p.Gln157* | exon 1 | Pathogenic, identified in 4 ALD cases (16, 32, 146). Deleterious mutation. No detectable ALDP in patient cells (146). |
| 152991193 | c.472C>G | p.Leu158Val | exon 1 | Benign variant, based on its frequency 47/1097532 in non-ALD alleles (323). |
| 152991194 | c.473T>C | p.Leu158Pro | exon 1 | Pathogenic, identified in 2 ALD cases (33, 125). |
| 152991197 | c.476C>G | p.Ala159Gly | exon 1 | Benign variant, based on its frequency 20/1211288 in non-ALD alleles (323). |
| 152991197 | c.476_99del | p.Ala159_Leu166del | exon 1 | Pathogenic, identified in 2 ALD cases (33, 96). |
| 152991200 | c.479T>C | p.Leu160Pro | exon 1 | Pathogenic, identified in 6 ALD cases (70, 111, 158, 266, 318, 328). |
| 152991202 | c.481T>C | p.Ser161Pro | exon 1 | Likely pathogenic, identified in a single ALD case (49). |
| 152991203 | c.482C>A | p.Ser161* | exon 1 | Pathogenic, identified in 2 ALD cases (29, 88). Deleterious mutation. |
| 152991204 | c.483del | p.Phe162Serfs*36 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991206 | c.485T>C | p.Phe162Ser | exon 1 | VUS, identified in ALD newborn screening (321), but has not yet been associated with disease. |
| 152991207 | c.487del | p.Arg163Alafs*35 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152991208 | c.487C>G | p.Arg163Gly | exon 1 | Likely pathogenic, identified in a single ALD case (163). |
| 152991208 | c.487C>T | p.Arg163Cys | exon 1 | Likely pathogenic, identified in a single ALD case (268) and 3x in ALD newborn screening (243, 294, 302). |
| 152991209 | c.488G>A | p.Arg163His | exon 1 | VUS, reported 6x in ALD newborn screening (191, 266, 274, 299), but has not yet been associated with disease. |
| 152991209 | c.488G>T | p.Arg163Leu | exon 1 | Pathogenic, identified in 2 ALD cases (33, 116). |
| 152991209 | c.488G>C | p.Arg163Pro | exon 1 | Pathogenic, identified in 9 ALD cases (33, 41, 49, 57). |
| 152991214 | c.493C>T | p.Arg165Cys | exon 1 | Benign variant, based on its frequency 22/1211285 in non-ALD alleles (323). |
| 152991215 | c.494del | p.Arg165Leufs*33 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991216 | c.495_514del | p.Leu166Profs*22 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 235). Deleterious mutation. |
| 152991217 | c.496_97insG | p.Leu166Argfs*29 | exon 1 | Pathogenic, identified in 3 ALD cases (61). Deleterious mutation. |
| 152991218 | c.497T>C | p.Leu166Pro | exon 1 | Pathogenic, identified in 2 ALD cases (220). |
| 152991219 | c.498_520del | p.Val167Leufs*20 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991220 | c.499G>C | p.Val167Leu | exon 1 | VUS, identified in ALD newborn screening (298), but has not yet been associated with disease. |
| 152991227 | c.506A>C | p.His169Pro | exon 1 | Likely pathogenic, identified in a single ALD case (145). |
| 152991229 | c.508G>A | p.Ala170Thr | exon 1 | Likely pathogenic, identified in a single ALD case (328), 5x in ALD newborn screening (274, 284), but also reported 10x in non-ALD alleles (frequency 10/1211112 alleles) (323). |
| 152991231 | c.510delC | p.Tyr171Thrfs*27 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991235 | c.514delC | p.Arg172Alafs*26 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991235 | c.514dupC | p.Arg172Profs*23 | exon 1 | Pathogenic, identified in a single ALD case (47). Deleterious mutation. |
| 152991235 | c.514delinsGTA | p.Arg172Valfs*27 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation |
| 152991236 | c.515G>A | p.Arg172His | exon 1 | Likely benign, based on frequency 14/1211247 in non-ALD alleles (323). |
| 152991236 | c.515_16insC | p.Leu173Profs*23 | exon 1 | Pathogenic, identified in 3 ALD cases (166). Deleterious mutation. No detectable ALDP in patient cells (166). |
| 152991239 | c.518T>C | p.Leu173Pro | exon 1 | Likely pathogenic, identified in a single ALD case (52). |
| 152991241 | c.520T>C | p.Tyr174His | exon 1 | Pathogenic, identified in 3 ALD cases (33, 267). |
| 152991241 | c.520T>G | p.Tyr174Asp | exon 1 | Pathogenic, identified in 4 ALD cases (8, 15, 292). |
| 152991242 | c.521A>G | p.Tyr174Cys | exon 1 | Pathogenic, identified in 43 ALD cases (29, 32, 33, 47, 49, 60, 62, 88, 93, 120, 137, 182, 239, 266, 280, 294, 306, 328, 332). No detectable ALDP in patient cells (32, 49, 60). Mutation affects targeting to peroxisomes (261). |
| 152991242 | c.521A>C | p.Tyr174Ser | exon 1 | Pathogenic, identified in 7 ALD cases (33, 60, 88, 145, 157, 266). Normal ALDP level in patient cells (60), but non-functional. |
| 152991243 | c.522C>G | p.Tyr174* | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991243 | c.522_24del | p.Phe175del | exon 1 | Pathogenic, identified in a single ALD case (53). Reduced ALDP expression in patient cells (53). |
| 152991245 | c.524T>A | p.Phe175Tyr | exon 1 | Pathogenic, identified in 6 ALD cases within a single family (307). Mutation cosegregates with elevated VLCFA. |
| 152991245 | c.524_26del | p.Phe175del | exon 1 | Likely pathogenic, identified in a single ALD case (32). Likely deleterious mutation. |
| 152991250 | c.529C>T | p.Gln177* | exon 1 | Pathogenic, identified in 18 ALD cases (29, 32, 33, 49, 60, 62, 86, 88, 93, 137, 141, 266, 284, 289, 290). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 60, 141, 290). |
| 152991251 | c.530_531del | p.Gln177Profs*17 | exon 1 | Pathogenic, identified in a single ALD case (288). Deleterious mutation. |
| 152991253 | c.532C>G | p.Gln178Glu | exon 1 | Pathogenicity of the variant p.Gln178Glu is unclear. It was identified in 3 ALD cases (4, 38), but in combination with a true pathogenic mutation, p.Tyr212*. |
| 152991253 | c.[532C>G; 636C>G] | p.[Gln178Glu; p.Tyr212*] | exon 1 | Pathogenic, identified in 3 ALD cases (4, 38). |
| 152991253 | c.532C>T | p.Gln178* | exon 1 | Pathogenic, identified in 2 ALD cases (125, 284). Deleterious mutation. |
| 152991258 | c.537_44dup | p.Arg182Profs*19 | exon 1 | Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation. |
| 152991260 | c.539A>G | p.Tyr180Cys | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991261 | c.540_41insT | p.Tyr181Leufs*14 | exon 1 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152991262 | c.541_42del | p.Tyr181Profs*13 | exon 1 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7). |
| 152991263 | c.542A>G | p.Tyr181Cys | exon 1 | Pathogenic, identified in ALD 9 cases (7, 32, 49, 52, 88, 263, 275). No detectable ALDP in patient cells (32). |
| 152991263 | c.542dup | p.Tyr181* | exon 1 | Pathogenic, identified in a single ALD case (189). Deleterious mutation. |
| 152991264 | c.543C>A | p.Tyr181* | exon 1 | Pathogenic, identified in 8 ALD cases (16, 146, 250, 290). Deleterious mutation. No detectable ALDP in patient cells (32, 146, 290). |
| 152991264 | c.543C>G | p.Tyr181* | exon 1 | Pathogenic, identified in 3 ALD cases (101). Deleterious mutation. |
| 152991265 | c.544C>G | p.Arg182Gly | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991266 | c.545G>A | p.Arg182Gln | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991266 | c.545G>C | p.Arg182Pro | exon 1 | Pathogenic, identified in 11 ALD cases (13, 33, 59, 64, 132, 137, 289). |
| 152991269 | c.548T>G | p.Val183Gly | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991274 | c.553A>G | p.Asn185Asp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991283 | c.562G>A | p.Gly188Arg | exon 1 | Benign variant, based on its frequency 33/1211116 in non-ALD alleles (323). |
| 152991285 | c.564delG | p.Arg189Glyfs*9 | exon 1 | Pathogenic, identified in a single ALD case (245). Deleterious mutation. |
| 152991286 | c.565C>T | p.Arg189Trp | exon 1 | Pathogenic, identified in 28 ALD cases (29, 33, 60, 191, 266, 274, 288, 294, 302, 312, 315). Normal ALDP level in patient cells (60), but non-functional. |
| 152991287 | c.566G>A | p.Arg189Gln | exon 1 | VUS, identified 2x in ALD newborn screening (274) ) and reported 1x in the gnomAD database (323) frequency 1/182621 in non-ALD alleles, but has not yet been associated with disease. Functional studies in fibroblasts are inconclusive (290). |
| 152991290 | c.569T>C | p.Leu190Pro | exon 1 | Likely pathogenic, identified in a single ALD case (38). |
| 152991293 | c.572G>A | p.Arg191His | exon 1 | Likely benign, based on frequency 10/1211008 in non-ALD alleles (323). |
| 152991295 | c.574A>G | p.Asn192Asp | exon 1 | Likely pathogenic, identified in 1 ALD case (245) and 1x in ALD newborn screening (303). |
| 152991297 | c.576C>A | p.Asn192Lys | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991301 | c.580G>A | p.Asp194Asn | exon 1 | Pathogenic, identified in 2 ALD cases (16, 58)and ALD newborn screening (274). Affects ALDP stability in patient cells (58). |
| 152991301 | c.580G>C | p.Asp194His | exon 1 | Pathogenic, identified in 7 ALD cases (32, 58, 97, 146). Affects ALDP stability (60% of control cells (97)) in patient cells (58, 97, 146) and causes deficient beta-oxidation in patient cells (259). |
| 152991302 | c.581A>T | p.Asp194Val | exon 1 | Likely pathogenic, identified in a single ALD case (327). |
| 152991302 | c.581_89del | p.Asp194_Leu197delinsVal | exon 1 | Likely pathogenic, identified in a single ALD case (51). |
| 152991303 | c.582C>G | p.Asp194Glu | exon 1 | VUS, identified 3x ALD newborn screening (274, 295), but has not yet been associated with disease. |
| 152991304 | c.583C>T | p.Gln195* | exon 1 | Pathogenic, identified in 2 ALD cases (49, 274). Deleterious mutation. |
| 152991305 | c.584A>T | p.Gln195Leu | exon 1 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 152991305 | c.584A>G | p.Gln195Arg | exon 1 | Likely pathogenic, identified in a single ALD case (245). |
| 152991305 | c.584_585del | p.Gln195Leufs*105 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991309 | c.588_89delCT | p.Leu197Aspfs*103 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 105). Deleterious mutation. |
| 152991310 | c.589_90del | p.Leu197Aspfs*103 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152991312 | c.591_92insT | p.Thr198Tyrfs*103 | exon 1 | Pathogenic, identified in a single ALD case (24). Deleterious mutation. |
| 152991314 | c.593C>A | p.Thr198Lys | exon 1 | Likely pathogenic, identified in a single ALD case (49). |
| 152991314 | c.593C>G | p.Thr198Arg | exon 1 | Likely pathogenic, identified in a single ALD case (96). |
| 152991314 | c.593C>T | p.Thr198Met | exon 1 | Pathogenic, identified in 14 ALD cases (33, 207, 243, 266, 284, 312). |
| 152991316 | c.595G>A | p.Glu199Lys | exon 1 | Likely pathogenic, identified in a single ALD case (100). |
| 152991319 | c.598G>A | p.Asp200Asn | exon 1 | Pathogenic, identified in 2 ALD cases (24, 100). |
| 152991319 | c.598delC | p.Asp200Thrfs*16 | exon 1 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 152991320 | c.599A>T | p.Asp200Val | exon 1 | Likely pathogenic, identified in a single ALD case (7). |
| 152991321 | c.600C>A | p.Asp200Glu | exon 1 | VUS, identified in ALD newborn screening (267), has not yet been associated with disease |
| 152991321 | c.600delC | p.Asp200Glufs*16 | exon 1 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 152991322 | c.601G>A | p.Val201Met | exon 1 | Benign variant based on 131/1210757 in non-ALD alleles (323). |
| 152991333 | c.612del | p.Phe204Leufs*12 | exon 1 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 152991335 | c.614C>A | p.Ala205Glu | exon 1 | Pathogenic, identified in 3 ALD cases (235, 250). |
| 152991335 | c.614C>T | p.Ala205Val | exon 1 | Likely benign, based on frequency 14/1210043 in non-ALD alleles (323). |
| 152991335 | c.614_622dup | p.Ala205_Ser207dup | exon 1 | Pathogenic, identified in 2 ALD cases (29, 49). (Originally reported as c.622_23insCGGCCTCTG). |
| 152991338 | c.617_618delinsT | p.Ala206Valfs*10 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991340 | c.619_27del | p.Ser207_Ala209del | exon 1 | Pathogenic, identified in a single ALD case (62). No detectable ALDP expression in patient cells (62). |
| 152991342 | c.621_900+384del664 | p.Val208Trpfs*35 | exon 1 | Pathogenic, identified in 7 ALD patient (32, 49, 141, 218). Deleterious mutation. No detectable ALDP expression in patient cells (32, 49, 141). |
| 152991343 | c.622_634del | p.Val208Thrfs*4 | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. (Originally reported as c.618_30del). |
| 152991343 | c.622dupG | p.Val208Glyfs*93 | exon 1 | Pathogenic, identified in a single ALD case (86). Deleterious mutation. |
| 152991344 | c.623T>A | p.Val208Glu | exon 1 | Pathogenic, identified in 2 ALD cases (158). |
| 152991346 | c.625G>A | p.Ala209Thr | exon 1 | VUS, identified 2x in ALD newborn screening (284, 309), but has not yet been associated with disease. |
| 152991347 | c.626C>T | p.Ala209Val | exon 1 | VUS, identified in ALD newborn screening (294), but has not yet been associated with disease. |
| 152991349 | c.628C>T | p.His210Tyr | exon 1 | VUS, identified 2x in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991350 | c.629A>T | p.His210Leu | exon 1 | Likely pathogenic, identified in a single ALD case (319). |
| 152991351 | c.630C>G | p.His210Gln | exon 1 | VUS, identified 2x in ALD newborn screening (297), but has not yet been associated with disease. |
| 152991352 | c.631C>T | p.Leu211Phe | exon 1 | VUS, identified in ALD newborn screening (238), but has not yet been associated with disease. |
| 152991353 | c.632T>C | p.Leu211Pro | exon 1 | Pathogenic, identified in 2 ALD cases (15, 177). |
| 152991354 | c.633delC | p.Tyr212Thrfs*4 | exon 1 | Pathogenic, identified in a single ALD case (269). Deleterious mutation. |
| 152991357 | c.636C>G | p.Tyr212* | exon 1 | Pathogenic, identified in 4 ALD cases (4, 38, 38, 158). Deleterious mutation. |
| 152991359 | c.638C>G | p.Ser213Cys | exon 1 | Pathogenic, identified in 3 ALD cases (27, 158). Normal ALDP level in patient cells, but non-functional: deficient beta-oxidation (259). |
| 152991359 | c.638C>T | p.Ser213Phe | exon 1 | Likely pathogenic, identified in a single ALD case (32) and 2x in ALD newborn screening (274). |
| 152991360 | c.639del | p.Asn214Thrfs*2 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991361 | c.640A>G | p.Asn214Asp | exon 1 | Pathogenic, identified in 2 ALD cases (24, 90). |
| 152991364 | c.643del | p.Leu215* | exon 1 | Pathogenic, identified in 5 ALD cases (32, 141). Deleterious mutation. No detectable ALDP expression in patient cells (32, 141). |
| 152991368 | c.647C>T | p.Thr216Ile | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991370 | c.649A>G | p.Lys217Glu | exon 1 | Pathogenic, identified in 7 ALD cases (32, 48, 49, 93, 167). Normal ALDP level in patient cells (49), but non-functional (48). |
| 152991370 | c.649A>T | p.Lys217* | exon 1 | Pathogenic, identified in a single ALD case (88). Deleterious mutation. |
| 152991373 | c.652C>T | p.Pro218Ser | exon 1 | Likely pathogenic, identified in a single ALD case (289). |
| 152991373 | c.652C>A | p.Pro218Thr | exon 1 | Pathogenic, identified in 8 ALD cases (29, 32, 49, 145, 280). Normal ALDP level in patient cells (32), but non-functional (32). |
| 152991373 | c.[652C>T; 664G>T] | p.[Pro218Ser; Val222Leu] | exon 1 | Pathogenic, identified in 4 ALD cases (98, 316). But it is unclear which variant is pathogenic; p.Pro218Ser has been reported. |
| 152991374 | c.653C>G | p.Pro218Arg | exon 1 | Likely pathogenic, identified in a single ALD case (175). |
| 152991380 | c.659T>C | p.Leu220Pro | exon 1 | Pathogenic, identified in 30 ALD cases (16, 32, 97, 141, 146, 205, 218, 245, 266, 290). Reduced (22% of control cells) ALDP in patient cells (32, 97, 141, 146, 290). |
| 152991383 | c.662_702del | p.Asp221Valfs*66 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991383 | c.662A>G | p.Asp221Gly | exon 1 | Pathogenic, identified in 3 ALD cases (7, 33). No detectable ALDP expression in patient cells (7). |
| 152991385 | c.[664G>T;652C>T] | p.[Val222Leu;Pro218Ser] | exon 1 | Pathogenic, identified in 4 ALD cases (98, 316). But it is unclear which variant is pathogenic; p.Pro218Ser has been reported. |
| 152991385 | c.664_70dup | p.Val224Glyfs*79 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991389 | c.668C>A | p.Ala223Asp | exon 1 | Pathogenic, identified in 3 ALD cases (33, 113, 288). |
| 152991392 | c.671T>G | p.Val224Gly | exon 1 | Pathogenic, identified in 2 ALD cases (33, 49). |
| 152991394 | c.673A>G | p.Thr225Ala | exon 1 | Likely benign, based on frequency 15/640745 in non-ALD alleles (323). |
| 152991395 | c.674C>T | p.Thr225Ile | exon 1 | VUS, identified in ALD newborn screening (274) , but has not yet been associated with disease. |
| 152991398 | c.678del | p.Tyr227Thrfs*109 | exon 1 | Pathogenic, identified in 4 ALD cases (29, 33, 302). Deleterious mutation. |
| 152991402 | c.681C>G | p.Tyr227* | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991402 | c.681C>A | p.Tyr227* | exon 1 | Pathogenic, identified in a single ALD case (189). Deleterious mutation and biochemically confirmed. |
| 152991405 | c.684_85insTACAC | p.Leu229Tyrfs*109 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991406 | c.685C>G | p.Leu229Val | exon 1 | Likely pathogenic, identified in 1 case (284) and 1 ClinVar entry without clinical info (266). |
| 152991407 | c.686T>C | p.Leu229Pro | exon 1 | Pathogenic, identified in 9 ALD cases (29, 33, 47, 49, 145, 263). |
| 152991412 | c.691C>T | p.Arg231Trp | exon 1 | Benign. Reported in ALD male (32) as pathogenic, but considering its frequency of 150/1209292 in non-ALD alleles (323) this is a benign variant. |
| 152991413 | c.692G>A | p.Arg231Gln | exon 1 | Likely benign, based on frequency 14/1209255 in non-ALD alleles (323). |
| 152991413 | c.692_94delinsC | p.Arg231Profs*69 | exon 1 | Pathogenic, identified in 4 ALD cases (33, 172, 250, 328). Deleterious mutation. |
| 152991414 | c.693_94del | p.Ala232Glyfs*68 | exon 1 | Pathogenic, identified in 2 ALD cases (3, 33). Deleterious mutation. No detectable ALDP expression in patient cells (33). |
| 152991416 | c.695_696del | p.Ala232Glyfs*68 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991416 | c.695_96insG | p.Ala233Glyfs*68 | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991417 | c.697del | p.Ala233Profs*103 | exon 1 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152991417 | c.696_706del11 | p.Ala233Trpfs*64 | exon 1 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 152991418 | c.697_900+25del | p.Ala233Glyfs*100 | exon 1 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 152991421 | c.700C>T | p.Arg234Cys | exon 1 | Likely pathogenic, identified in a single ALD case (245) and 5 times in ALD newborn screening (191, 274, 294). |
| 152991422 | c.701G>A | p.Arg234His | exon 1 | Benign variant based on frequency 39/1209420 in non-ALD alleles (323). |
| 152991424 | c.703_744del | p.Ser235_Gly248del | exon 1 | Pathogenic, identified in 2 ALD cases (299). Deleterious mutation. |
| 152991427 | c.706_09del | p.Arg236Glufs*99 | exon 1 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 152991427 | c.706C>G | p.Arg236Gly | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991428 | c.707G>C | p.Arg236Pro | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991428 | c.707G>A | p.Arg236His | exon 1 | Benign, based on frequency 7888/1209571 in non-ALD alleles (323). |
| 152991434 | c.713C>A | p.Ala238Asp | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991436 | c.715G>A | p.Gly239Ser | exon 1 | Likely benign, identified in ALD newborn screening (274), but also 11x in non-ALD alleles (frequency 11/1095711 alleles) (323). |
| 152991444 | c.723del | p.Trp242Glyfs*94 | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991445 | c.724_28del | p.Trp242Leufs*57 | exon 1 | Pathogenic, identified in a single ALD case (3). Deleterious mutation. |
| 152991446 | c.725G>A | p.Trp242* | exon 1 | Pathogenic, identified in a single ALD case (96). Deleterious mutation. |
| 152991447 | c.726G>A | p.Trp242* | exon 1 | Pathogenic, identified in 7 ALD cases (15, 32, 33, 49, 59, 64, 132). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 152991449 | c.728C>G | p.Pro243Arg | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 152991450 | c.729dup | p.Ser244Leufs*57 | Exon 1 | Pathogenic, identified in a single ALD case (332). Deleterious mutation. |
| 152991451 | c.730delT | p.Ser244Argfs*92 | exon 1 | Pathogenic, identified in a single ALD casein a single ALD case (33). Deleterious mutation. |
| 152991451 | c.730_31delinsGAGA | p.Ser244Glufs*93 | exon 1 | Pathogenic, identified in 4 ALD cases (37). Deleterious mutation. |
| 152991452 | c.731C>T | p.Ser244Leu | exon 1 | Benign, based on frequency 9/1093429 in non-ALD alleles (323) and confirmed by demonstration of normal C26:0-lysoPC levels in plasma (32). |
| 152991455 | c.734C>A | p.Ala245Asp | exon 1 | Pathogenic, identified in 2 ALD cases (141, 290). Normal ALDP level in patient cells (141, 290), but non-functional (141, 290). |
| 152991460 | c.739G>A | p.Ala247Thr | exon 1 | VUS, identified 9 times in ALD newborn screening (274, 284, 294) and reported 4x in the gnomAD database (323) frequency 4/1093397 in non-ALD alleles, but has not yet been associated with disease. |
| 152991460 | c.739delG | p.Ala247Profs*89 | exon 1 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 152991460 | c.739_40insGCCATCG | p.Ala247Glyfs*56 | exon 1 | Pathogenic, identified in a single ALD case (93). Deleterious mutation. |
| 152991463 | c.742G>A | p.Gly248Ser | exon 1 | Benign, based on frequency 72/1206358 in non-ALD alleles (323). |
| 152991463 | c.742G>C | p.Gly248Arg | exon 1 | Likely pathogenic, identified in a single ALD case (292). |
| 152991463 | c.742_45del | p.Gly248Serfs*87 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 328). Deleterious mutation. |
| 152991464 | c.743G>C | p.Gly248Ala | exon 1 | Likely benign variant identified in male with normal VLCFA levels (308) |
| 152991469 | c.748G>A | p.Val250Met | exon 1 | Likely benign, based on frequency 13/1092420 in non-ALD alleles (323). |
| 152991469 | c.748_59del | p.Val250_Leu253del | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991472 | c.751_53del | p.Val251del | exon 1 | Likely pathogenic, identified in a single ALD case (33) and in ALD newborn screening (295). |
| 152991473 | c.752T>A | p.Val251Glu | exon 1 | Likely pathogenic, identified in a single ALD case (44). |
| 152991477 | c.756C>A | p.Phe252Leu | exon 1 | Benign, based on frequency 139/1204541 in non-ALD alleles (323). |
| 152991478 | c.757C>G | p.Leu253Val | exon 1 | Benign, based on frequency 1439/1204688 in non-ALD alleles(323). |
| 152991478 | c.757_65delinsGAGG | p.Leu253Glufs*46 | exon 1 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. |
| 152991481 | c.760dupA | p.Thr254Asnfs*47 | exon 1 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152991481 | c.760A>G | p.Thr254Ala | exon 1 | Pathogenic, identified in 5 ALD cases (33, 58, 315). Normal ALDP level in patient cells (58), but non-functional (58). |
| 152991481 | c.760A>C | p.Thr254Pro | exon 1 | Pathogenic, identified in 3 ALD cases (33, 90). |
| 152991482 | c.761delC | p.Thr254Argfs*82 | exon 1 | Pathogenic, identified in 2 ALD cases (81, 104). Deleterious mutation. |
| 152991482 | c.761C>A | p.Thr254Lys | exon 1 | Pathogenic, identified in 2 ALD cases (33, 52). |
| 152991482 | c.761C>T | p.Thr254Met | exon 1 | Pathogenic, identified in 14 ALD cases (15, 33, 105, 209, 235, 250, 267, 274, 284, 329). |
| 152991484 | c.763G>A | p.Ala255Thr | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991487 | c.766_769dup | p.Val257Glufs*45 | exon 1 | Pathogenic, identified in 2 ALD case (274). Deleterious mutation. |
| 152991494 | c.773T>C | p.Leu258Pro | exon 1 | Pathogenic, identified in 2 ALD cases (33, 316). |
| 152991496 | c.775C>T | p.Arg259Trp | exon 1 | Likely benign, based on frequency 10/1197993 in non-ALD alleles (323). It was identified in an ALD patient (167), but in combination with a true pathogenic mutation, p.Ser108*. |
| 152991497 | c.776G>A | p.Arg259Gln | exon 1 | Benign, based on frequency 66/1198552 in non-ALD alleles (323). |
| 152991505 | c.784_785del | p.Ser262Alafs*38 | exon 1 | Pathogenic, identified in 2 ALD cases (33, 235). Deleterious mutation. |
| 152991506 | c.785_91del | p.Ser262Cysfs*72 | exon 1 | Pathogenic, identified in a single ALD case (16). Deleterious mutation. |
| 152991506 | c.785C>A | p.Ser262* | exon 1 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 152991506 | c.785C>G | p.Ser262Trp | exon 1 | Pathogenic, identified in 6 ALD cases (32, 200, 289). |
| 152991508 | c.787C>T | p.Pro263Ser | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991509 | c.788C>T | p.Pro263Leu | exon 1 | Pathogenic, identified in a single ALD case (7). Affects ALDP stability in patient cells (7). |
| 152991511 | c.790A>T | p.Lys264* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991515 | c.794T>C | p.Phe265Ser | exon 1 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152991517 | c.796G>A | p.Gly266Arg | exon 1 | Pathogenic, identified in 46 ALD cases (8, 16, 24, 33, 49, 52, 53, 59, 62, 64, 67, 72, 88, 90, 93, 96, 105, 132, 137, 162, 214, 220, 235, 274, 280, 289, 294, 332). Normal ALDP level in patient cells (53, 72), but non-functional. |
| 152991517 | c.796G>C | p.Gly266Arg | exon 1 | Pathogenic, identified in a single ALD case (58). Normal ALDP level in patient cells (58), but non-functional. |
| 152991518 | c.797G>A | p.Gly266Glu | exon 1 | Pathogenic, identified in 6 ALD cases (32, 49, 96, 266, 328). |
| 152991520 | c.799G>A | p.Glu267Lys | exon 1 | Likely pathogenic, identified in a single ALD case (51). |
| 152991520 | c.799G>T | p.Glu267* | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991520 | c.799del | p.Glu267Serfs*69 | exon 1 | Pathogenic, identified in a single ALD case (15). Deleterious mutation. |
| 152991526 | c.805G>A | p.Val269Met | exon 1 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 152991527 | c.806T>G | p.Val269Gly | exon 1 | VUS, identified in ALD newborn screening (309), but has not yet been associated with disease. |
| 152991530 | c.809C>T | p.Ala270Val | exon 1 | Likely benign, based on frequency 13/1191788 in non-ALD alleles (323). |
| 152991532 | c.811G>A | p.Glu271Lys | exon 1 | Likely pathogenic, identified in a single ALD case (24). |
| 152991536 | c.815_17del | p.Glu272del | exon 1 | Likely pathogenic, identified in a single ALD case (33) and 2x in ALD neb=wborn screening (191). |
| 152991539 | c.818del | p.Ala273Glyfs*63 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991539 | c.818C>T | p.Ala273Val | exon 1 | Likely pathogenic, identified in a single ALD case (319), 1x in ALD newborn screening (274) and reported 1x in the gnomAD database (323) frequency 1/139664 in non-ALD alleles. |
| 152991539 | c.818C>A | p.Ala273Glu | exon 1 | Pathogenic, identified in a single ALD case (58). Normal ALDP level in patient cells (58), but non-functional. |
| 152991541 | c.820C>T | p.Arg274Trp | exon 1 | Likely benign, identified in ALD newborn screening (334) but also 7x (frequency 7/432590) in non-ALD alleles (323). |
| 152991542 | c.821G>A | p.Arg274Gln | exon 1 | Likely benign, based on frequency 15/1185386 in non-ALD alleles (323). |
| 152991542 | c.821G>C | p.Arg274Pro | exon 1 | VUS, no clinical info presented (225) |
| 152991544 | c.823C>T | p.Arg275Trp | exon 1 | VUS, identified 9 times in ALD newborn screening (181, 243, 266, 274, 334), and reported 4x in the gnomAD database (323) frequency 4/1071770 in non-ALD alleles. Mildly elevated C26:0-LPC levels in plasma (291), but has not yet been associated with disease. |
| 152991545 | c.824G>A | p.Arg275Gln | exon 1 | Likely benign, based on frequency 10/1185206 in non-ALD alleles (323). |
| 152991545 | c.824G>C | p.Arg275Pro | exon 1 | Likely pathogenic, identified in a single ALD case (200) and in ALD newborn screening (294). |
| 152991547 | c.826A>G | p.Lys276Glu | exon 1 | Pathogenic, identified in 2 ALD cases (22, 86). Normal ALDP level in patient cells (22), but non-functional. |
| 152991549 | c.828G>T | p.Lys276Asn | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991549 | c.828_29insAAT | p.Gly277_Glu278insAsn | exon 1 | Pathogenic, identified in 2 ALD cases (15, 158). |
| 152991550 | c.829G>A | p.Gly277Arg | exon 1 | Pathogenic, identified in 5 ALD cases (15, 33, 60, 88). Normal ALDP level in patient cells (60), but non-functional. |
| 152991550 | c.829G>C | p.Gly277Arg | exon 1 | Pathogenic, identified in 5 ALD cases (27, 60, 232). Normal ALDP level in patient cells (60), but non-functional. |
| 152991550 | c.829G>T | p.Gly277Trp | exon 1 | Pathogenic, identified in 5 ALD cases (13, 27, 200, 239, 289). |
| 152991551 | c.830G>A | p.Gly277Glu | exon 1 | Likely pathogenic, identified in a single ALD case (33) and 1x in ALD newborn screening (191). |
| 152991553 | c.832G>T | p.Glu278* | exon 1 | Pathogenic, identified in 3 ALD cases (58, 218, 290). Deleterious mutation. No detectable ALDP expression in patient cells (290). |
| 152991553 | c.832_34delinsAC | p.Glu278Thrfs*58 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991557 | c.836T>C | p.Leu279Pro | exon 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP expression in patient cells (60). |
| 152991559 | c.838C>T | p.Arg280Cys | exon 1 | Pathogenic, identified in 20 ALD cases (32, 33, 50, 60, 191, 193, 266, 274, 294, 295, 328). Normal ALDP level in patient cells (60), but non-functional. |
| 152991560 | c.839G>C | p.Arg280Pro | exon 1 | Likely pathogenic, identified in a single ALD case (258). |
| 152991560 | c.839G>A | p.Arg280His | exon 1 | VUS, identified 16 times in ALD newborn screening (191, 200, 267, 274, 284, 295, 334), but has not yet been associated with disease. |
| 152991560 | c.839G>T | p.Arg280Leu | exon 1 | Pathogenic, identified in 2 ALD cases (55, 93). |
| 152991562 | c.841T>C | p.Tyr281His | exon 1 | Likely pathogenic, identified in a single ALD case (178). |
| 152991564 | c.843C>A | p.Tyr281* | exon 1 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152991568 | c.847C>T | p.His283Tyr | exon 1 | Pathogenic, identified in 5 ALD cases (32, 141). Affects ALDP stability in patient cells (32, 141). |
| 152991568 | c.847C>G | p.His283Asp | exon 1 | Pathogenic, identified in 6 ALD cases (59, 64, 93, 132, 137, 266). |
| 152991569 | c.848A>G | p.His283Arg | exon 1 | Pathogenic, identified in 8 ALD cases (89, 93, 173, 332). |
| 152991569 | c.848A>C | p.His283Pro | exon 1 | Likely pathogenic, identified in a single ALD case (284). |
| 152991572 | c.851C>A | p.Ser284* | exon 1 | Pathogenic, identified in 4 ALD cases (32, 245, 280). Deleterious mutation. No detectable ALDP expression in patient cells (32). |
| 152991572 | c.851C>G | p.Ser284Trp | exon 1 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 152991572 | c.851C>T | p.Ser284Leu | exon 1 | VUS, identified 4 times in ALD newborn screening (294, 296, 334) and confirmed by increased VLCFA (296), but has not yet been associated with disease. |
| 152991573 | c.852_53insACTC | p.Arg285Thrfs*17 | exon 1 | Pathogenic, identified in 4 ALD cases (33, 104, 235, 250). Deleterious mutation. |
| 152991573 | c.852dup | p.Arg285Alafs*16 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991574 | c.853C>A | p.Arg285Ser | exon 1 | VUS, identified 4 times in ALD newborn screening (191, 274, 295), but has not yet been associated with disease. |
| 152991574 | c.853C>T | p.Arg285Cys | exon 1 | Likely pathogenic, identified in a single ALD case (267) and 1x in ALD newborn screening (274). |
| 152991574 | c.853C>G | p.Arg285Gly | exon 1 | Pathogenic, identified in 5 ALD cases within a single family (278) Mutation cosegregates with elevated VLCFA. |
| 152991575 | c.854G>C | p.Arg285Pro | exon 1 | Pathogenic, identified in 3 ALD cases (27, 49, 285). |
| 152991575 | c.854G>A | p.Arg285His | exon 1 | Benign, based on frequency 42/1175624 in non-ALD alleles (323) confirmed by identified normal VLCFA (291). |
| 152991590 | c.869del | p.Ser290Trpfs*46 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991590 | c.869C>T | p.Ser290Leu | exon 1 | VUS, identified 2x in ALD newborn screening (274, 309) and reported 7x in the gnomAD database (323) frequency 7/1050996 in non-ALD alleles, but has not yet been associated with disease. |
| 152991590 | c.869C>G | p.Ser290Trp | exon 1 | Likely pathogenic, identified in a single ALD case (90). |
| 152991590 | c.869C>A | p.Ser290* | exon 1 | Pathogenic, identified in 3 ALD cases (32, 49, 292). Deleterious mutation. No detectable ALDP expression in patient cells (49). |
| 152991592 | c.871G>A | p.Glu291Lys | exon 1 | Pathogenic, identified in 9 ALD cases (5, 58, 59, 60, 64, 132, 137, 266, 330). No detectable ALDP expression in patient cells (58, 60). |
| 152991593 | c.872A>G | p.Glu291Gly | exon 1 | Pathogenic, identified in 4 ALD cases (145, 263). |
| 152991594 | c.873G>C | p.Glu291Asp | exon 1 | Pathogenic, identified in 2 ALD cases (22, 33) and 2x in ALD newborn screening (297). No detectable ALDP expression in patient cells (22, 33). |
| 152991595 | c.874_76delGAG | p.Glu292del | exon 1 | Pathogenic, identified in 30 ALD cases (15, 22, 24, 31, 32, 33, 49, 178, 245, 250, 257, 284, 290, 328). No detectable ALDP expression in patient cells (22, 49, 290). (Also reported as p.Glu291del). |
| 152991595 | c.874G>A | p.Glu292Lys | exon 1 | Pathogenic, identified in 2 ALD cases (184) and 1x in ALD newborn screening (295). |
| 152991597 | c.876G>C | p.Glu292Asp | exon 1 | Likely pathogenic, identified in a single ALD case (235). |
| 152991600 | c.879del | p.Ile293Metfs*43 | exon 1 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 152991601 | c.880G>A | p.Ala294Thr | exon 1 | Pathogenic, identified in 4 ALD cases (7, 32, 328) and 5x in ALD newborn screening (191, 274, 294). |
| 152991602 | c.881C>T | p.Ala294Val | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991603 | c.882_883insGC | p.Phe295Alafs*42 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991605 | c.884T>G | p.Phe295Cys | exon 1 | Likely benign, based on frequency 10/1185206 in non-ALD alleles (323). |
| 152991606 | c.885delinsTA | p.Tyr296Ilefs*5 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991607 | c.886_99del14 | p.Tyr296Glyfs*100 | exon 1 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 152991607 | c.886T>C | p.Tyr296His | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991608 | c.887A>G | p.Tyr296Cys | exon 1 | Pathogenic, identified in 40 ALD cases (24, 33, 49, 52, 59, 62, 64, 88, 100, 115, 125, 132, 137, 235, 266, 289, 292, 297, 304, 306, 318, 328). Normal ALDP level in patient cells (58), but non-functional. |
| 152991608 | c.887A>C | p.Tyr296Ser | exon 1 | Likely pathogenic, identified in a single ALD case (33) and in ALD newborn screening (294). |
| 152991609 | c.888T>G | p.Tyr296* | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991613 | c.892G>C | p.Gly298Arg | exon 1 | Likely pathogenic, identified in a single ALD case (125). |
| 152991613 | c.892G>A | p.Gly298Ser | exon 1 | Pathogenic, identified in 16 ALD cases (33, 218, 245, 253, 267, 290, 317), detectable ALDP in patient cells, but not functional (290). |
| 152991613 | c.892_96delinsGTCA | p.Gly298Valfs*38 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP expression in patient cells (58). |
| 152991613 | c.892_93insGC | p.His299Profs*38 | exon 1 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152991614 | c.893del | p.Gly298Alafs*38 | exon 1 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152991614 | c.893G>A | p.Gly298Asp | exon 1 | Pathogenic, identified in 7 ALD cases (29, 38, 58, 125, 280). No detectable ALDP expression in patient cells (58). |
| 152991614 | c.893G>T | p.Gly298Val | exon 1 | Likely pathogenic, identified in a single ALD case (33). |
| 152991614 | c.893_94delinsT | p.Gly298Valfs*38 | exon 1 | Pathogenic, identified in 2 ALD cases (53, 84). Deleterious mutation. No detectable ALDP expression in patient cells (53). |
| 152991614 | c.893_894insG | p.His299Alafs*2 | exon 1 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152991616 | c.895C>T | p.His299Tyr | exon 1 | Benign, based on frequency 135/1149491 in non-ALD alleles (323). Confirmed by functional studies in fibroblasts (290). |
| 152991617 | c.896A>G | p.His299Arg | exon 1 | Benign, based on frequency 19/1036548 in non-ALD alleles (323) and confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (32) and functional testing in fibroblasts showing normal results (290). |
| 152991621 | c.900G>A | p.Val301fs*34 | exon 1 | Pathogenic, identified in 3 ALD cases (33, 53, 152). Reduced (7% of control cells) ALDP in patient cells due to splicing defect (152). |
| 152991622 | c.900+1G>T | p.Val301fs*? | IVS 1 | Pathogenic, identified in 4 ALD cases (49, 59, 64, 132). Deleterious mutation. |
| 152991622 | c.900+1G>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 4 ALD cases (33, 100, 117, 289). Deleterious mutation. |
| 152991623 | c.900+2T>A | p.Val301fs*? | IVS 1 | Likely pathogenic, identified in a single ALD case (305). Should effect splicing and protein stability, but experimental proof was not provided. |
| 152991648 | c.900+27G>A | IVS 1 | Likely benign, based on frequency 9/88236 in non-ALD alleles (323). | |
| 152991651 | c.900+30G>A | IVS 1 | Likely benign, based on frequency 10/87692 in non-ALD alleles (323). | |
| 152994662 | c.901-25_901-9del | p.Val301fs*? | IVS 1 | Pathogenic, identified in 2 ALD cases (310). Deleterious mutation (exon 2 skipped) confirmed by molecular testing. |
| 152994671 | c.901-16C>T | IVS 1 | Benign, based on its frequency of 1567/199361 in non-ALD alleles (323). | |
| 152994677 | c.901-10C>T | IVS 1 | Benign, based on its frequency of 773/204021 in non-ALD alleles (323). | |
| 152994682 | c.901-5C>T | IVS 1 | Benign, based on its frequency of 47/204461 in non-ALD alleles (323). | |
| 152994682 | c.901-5C>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 8 ALD cases (32, 218, 245, 290). Affects splicing of exon 2, no detectable ALDP in patient cells (290). |
| 152994684 | c.901-3C>G | p.Val301fs*? | IVS 1 | Pathogenic, identified in a single ALD case (60). No detectable ALDP in patient cells (60). |
| 152994685 | c.901-2A>C | p.Val301fs*? | IVS 1 | Likely pathogenic, identified in a single ALD case (68). Should effect splicing and protein stability, but experimental proof was not provided. |
| 152994686 | c.901-1G>A | p.Val301fs*? | IVS 1 | Pathogenic, identified in 7 ALD cases (33, 49, 62, 111, 125, 274). Deleterious mutation. |
| 152994690 | c.904G>A | p.Glu302Lys | exon 2 | Pathogenic, identified in 5 ALD cases (21, 58, 72, 191). Affects ALDP stability in patient cells (58, 72). |
| 152994690 | c.904G>C | p.Glu302Gln | exon 2 | Pathogenic, identified in a single ALD case (32). Affects ALDP stability in patient cells (32). |
| 152994690 | c.904_905delinsAT | p.Glu302Met | exon 2 | Likely pathogenic, identified in a single ALD case (258). |
| 152994691 | c.905A>T | p.Glu302Val | exon 2 | Likely pathogenic, identified in a single ALD case (88). |
| 152994691 | c.905A>G | p.Glu302Gly | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994692 | c.906G>C | p.Glu302Asp | exon 2 | Likely pathogenic, identified in a single ALD case (137). |
| 152994696 | c.910_911ins21 | p.Ala304delins8 | exon 2 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 152994696 | c.910G>C | p.Ala304Pro | exon 2 | VUS, reported in combination with a pathogenic mutation (289). |
| 152994696 | c.910del | p.Ala304Profs*32 | exon 2 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 152994702 | c.916_922dup | p.Arg308Profs*95 | exon 2 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 152994705 | c.919C>T | p.Gln307* | exon 2 | Pathogenic, identified in 7 ALD cases (62, 127, 228, 266, 300). Deleterious mutation. |
| 152994708 | c.922C>T | p.Arg308Cys | exon 2 | Likely benign, based on frequency 15/1210936 in non-ALD alleles (323). |
| 152994709 | c.923G>A | p.Arg308His | exon 2 | Likely benign, based on frequency 18/1210936 in non-ALD alleles (323). |
| 152994709 | c.923G>C | p.Arg308Pro | exon 2 | Likely pathogenic, identified in 3 cases from 1 family and 1x in ALD NBS (284). |
| 152994711 | c.925T>C | p.Ser309Pro | exon 2 | Pathogenic, identified in 2 ALD cases (284) |
| 152994717 | c.931C>T | p.Gln311* | exon 2 | Pathogenic, identified in 4 ALD cases (2, 60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 152994718 | c.932dup | p.Asp312Glyfs*89 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152994719 | c.933_34insA | p.Asp312Argfs*89 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152994721 | c.935del | p.Asp312Alafs*24 | exon 2 | Pathogenic, identified in 2 ALD patient (35). Deleterious mutation. |
| 152994723 | c.937delC | p.Leu313Trpfs*23 | exon 2 | Pathogenic, identified in 3 ALD cases (59, 64, 132). Deleterious mutation. |
| 152994724 | c.938T>A | p.Leu313Gln | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994724 | c.938T>C | p.Leu313Pro | exon 2 | Pathogenic, identified in 3 ALD cases (33, 88, 90). |
| 152994726 | c.940G>C | p.Ala314Pro | exon 2 | Likely pathogenic, identified in a single ALD case (93). |
| 152994729 | c.943del | p.Ser315Argfs*21 | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 152994730 | c.944C>A | p.Ser315* | exon 2 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 152994730 | c.944C>T | p.Ser315Leu | exon 2 | Likely benign, based on frequency 10/1185206 in non-ALD alleles (323). |
| 152994732 | c.946C>T | p.Gln316* | exon 2 | Pathogenic, identified in 3 ALD cases (280). Deleterious mutation. |
| 152994733 | c.947A>C | p.Gln316Pro | exon 2 | Pathogenic, identified in 2 ALD cases (129). |
| 152994751 | c.965T>C | p.Leu322Pro | exon 2 | Pathogenic, identified in 4 ALD cases (26, 33, 62, 135). |
| 152994753 | c.967G>T | p.Glu323* | exon 2 | Pathogenic, identified in a single ALD case (225). Deleterious mutation. |
| 152994756 | c.970C>T | p.Arg324Cys | exon 2 | VUS, identified 8x in ALD newborn screening (191, 200, 267, 294, 334). Affects ALDP function in fibroblasts(290), but has not yet been associated with disease. |
| 152994759 | c.973C>G | p.Leu325Val | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994760 | c.974T>C | p.Leu325Pro | exon 2 | Pathogenic, identified in 4 ALD cases (33, 125, 332). |
| 152994763 | c.977G>A | p.Trp326* | exon 2 | Pathogenic, identified in 3 ALD cases (2, 60, 154). Deleterious mutation. |
| 152994763 | c.977_983del | p.Trp326Leufs*8 | exon 2 | Pathogenic, identified in a single ALD case (225). Deleterious mutation. |
| 152994764 | c.978G>A | p.Trp326* | exon 2 | Pathogenic, identified in 2 ALD cases (100, 294). Deleterious mutation. |
| 152994765 | c.979_80insT | p.Tyr327Leufs*74 | exon 2 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152994767 | c.981T>A | p.Tyr327* | exon 2 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 152994768 | c.982G>T | p.Val328Phe | exon 2 | Likely pathogenic, identified in a single ALD case (120). |
| 152994769 | c.983T>G | p.Val328Gly | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994772 | c.986T>G | p.Met329Arg | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994774 | c.988_1005del | p.Leu330_Met335del | exon 2 | Pathogenic, identified in 2 ALD cases (33, 274). Deleterious mutation. |
| 152994775 | c.989T>A | p.Leu330Gln | exon 2 | VUS, identified in ALD newborn screening (334), but has not yet been associated with disease. |
| 152994777 | c.991G>A | p.Glu331Lys | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994777 | c.991G>T | p.Glu331* | exon 2 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 152994780 | c.994C>T | p.Gln332* | exon 2 | Pathogenic, identified in 2 ALD cases (165, 266). Deleterious mutation. |
| 152994782 | c.996G>C | p.Gln332His | exon 2 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994783 | c.997T>A | p.Phe333Ile | exon 2 | Benign, confirmed by normal C26:0-LPC in dried blood spots (337). |
| 152994786 | c.1000C>T | p.Leu334Phe | exon 2 | Likely benign. Identified 2x in ALD newborn screening (274, 290) and confirmed by functional studies in fibroblasts (290). |
| 152994787 | c.1001T>C | p.Leu334Pro | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994790 | c.1004T>G | p.Met335Arg | exon 2 | Likely pathogenic, identified in a single ALD case (33). |
| 152994792 | c.1006A>G | p.Lys336Glu | exon 2 | Likely pathogenic, identified in a single ALD case (298). |
| 152994793 | c.1007A>C | p.Lys336Thr | exon 2 | VUS, identified 2x in ALD newborn screening (302), but has not yet been associated with disease. |
| 152994793 | c.1007A>T | p.Lys336Met | exon 2 | Likely pathogenic, identified in a single ALD case (49). |
| 152994794 | c.1008G>T | p.Lys336Asn | exon 2 | Likely pathogenic, identified in a single ALD case (32). |
| 152994794 | c.1008G>C | p.Lys336Asn | exon 2 | Likely pathogenic, identified in a single ALD case (145). |
| 152994795 | c.1009T>C | p.Tyr337His | exon 2 | Pathogenic, identified in 2 ALD cases (33, 289). |
| 152994797 | c.1011T>A | p.Tyr337* | exon 2 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152994801 | c.1015T>C | p.Trp339Arg | exon 2 | Pathogenic, identified in 2 ALD cases (38, 245). |
| 152994801 | c.1015T>G | p.Trp339Gly | exon 2 | Pathogenic, identified in 5 ALD cases (186, 247, 267). |
| 152994802 | c.1016G>C | p.Trp339Ser | exon 2 | Likely pathogenic, identified in 2 ALD cases (145, 245). |
| 152994802 | c.1016G>A | p.Trp339* | exon 2 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 152994803 | c.1017G>A | p.Trp339* | exon 2 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 152994803 | c.1017G>T | p.Trp339Cys | exon 2 | Likely pathogenic, identified in a single ALD case (125). |
| 152994803 | c.1017G>C | p.Trp339Cys | exon 2 | Likely pathogenic, identified in a single ALD case (202). |
| 152994807 | c.1021G>T | p.Ala341Ser | exon 2 | Benign, based on frequency 24/1210343 in non-ALD alleles (323). |
| 152994808 | c.1022C>A | p.Ala341Asp | exon 2 | Pathogenic, identified in a single ALD case (104). Confirmed by functional studies (104). |
| 152994810 | c.1024T>C | p.Ser342Pro | exon 2 | Pathogenic, identified in 4 ALD cases (22, 33). Normal ALDP level in patient cells (22, 33), but non-functional (22, 33, 261). |
| 152994811 | c.1025C>T | p.Ser342Leu | exon 2 | VUS, identified 4x in ALD newborn screening (191, 200, 274), but has not yet been associated with disease. |
| 152994813 | c.1027G>A | p.Gly343Ser | exon 2 | Likely pathogenic, identified in a single ALD case (165). |
| 152994814 | c.1028G>A | p.Gly343Asp | exon 2 | Pathogenic, identified in 5 ALD cases (33, 49, 203, 277, 292) and 1x in ALD newborn screening (297). |
| 152994814 | c.1028G>T | p.Gly343Val | exon 2 | Pathogenic, identified in 24 ALD cases (59, 64, 93, 108, 132, 137, 145, 174, 206, 263, 284, 318, 319). |
| 152994817 | c.1031T>C | p.Leu344Pro | exon 2 | Pathogenic, identified in 2 ALD cases (33, 293). |
| 152994819 | c.1033C>T | p.Leu345Phe | exon 2 | VUS, identified 2x in ALD newborn screening (274), but has not yet been associated with disease. |
| 152994822 | c.1036A>G | p.Met346Val | exon 2 | VUS, identified 2x in ALD newborn screening (191, 299), but has not yet been associated with disease. |
| 152994831 | c.1045del | p.Val349Serfs*17 | exon 2 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 152994836 | c.1050del | p.Ile351Serfs*15 | exon 2 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 152994847 | c.1061C>T | p.Ala354Val | Exon 2 | Likely benign, based on frequency 9/1097232 in non-ALD alleles (323). |
| 152994855 | c.1069_70delTinsGCC | p.Tyr357Alafs*10 | exon 2 | Pathogenic, identified in 2 ALD cases (38). Deleterious mutation. |
| 152994857 | c.1071C>G | p.Tyr357* | exon 2 | Pathogenic, identified in a single ALD case (288). Deleterious mutation. |
| 152994858 | c.1072T>C | p.Ser358Pro | exon 2 | Benign, based on frequency 14/1209770 in non-ALD alleles (323), and confirmed by biochemical testing (139). |
| 152994859 | c.1073C>G | p.Ser358* | exon 2 | Pathogenic, identified in 5 ALD cases (60, 100, 154, 191, 250). Deleterious mutation. No detectable ALDP expression in patient cells (60). |
| 152994860 | c.1074_75insA | p.Glu359Argfs*42 | exon 2 | Pathogenic, identified in 2 ALD cases (100, 266). Deleterious mutation. |
| 152994861 | c.1075G>T | p.Glu359* | exon 2 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 152994862 | c.1076_77delAG | p.Glu359Argfs*41 | exon 2 | Pathogenic, identified in 2 ALD cases (37, 145). Deleterious mutation. |
| 152994864 | c.1078_1080delinsC | p.Ser360Argfs*40 | exon 2 | Pathogenic, identified in a single ALD case (250). Deleterious mutation. |
| 152994865 | c.1079C>G | p.Ser360* | exon 2 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 152994872 | c.1081+5G>C | p.Leu303_Glu498del | IVS 2 | Pathogenic, identified in a single ALD case (104). Deleterious mutation. Affects splicing of exon 2 resulting in the deletion of exons 2-5 and no detectable ALDP expression in patient cells (104). |
| 153001534 | c.1082-32>delC | IVS 2 | Benign, based on its frequency of 82/193725 in non-ALD alleles (323) | |
| 153001547 | c.1082-19C>G | IVS 2 | Benign, based on its frequency of 86/200838 in non-ALD alleles (323) | |
| 153001566 | c.1082A>G | p.Asp361Gly | exon 3 | Likely benign, based on frequency 10/1084253 in non-ALD alleles (323). |
| 153001574 | c.1090del | p.Ala364Profs*2 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001576 | c.1092del | p.Ala365* | exon 3 | Pathogenic, identified in a single ALD case (48). Deleterious mutation. |
| 153001576 | c.1092_93insA | p.Val365Serfs*36 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001577 | c.1093G>A | p.Val365Met | exon 3 | Likely benign, based on frequency 17/1120729 in non-ALD alleles (323). |
| 153001577 | c.1093G>C | p.Val365Leu | exon 3 | Likely benign, based on frequency 12/1120729 in non-ALD alleles (323). |
| 153001580 | c.1096A>T | p.Lys366* | exon 3 | Pathogenic, identified in 4 ALD cases (181, 266). Deleterious mutation. |
| 153001585 | c.1101_1108dup | p.Leu370Trpfs*12 | exon 3 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001593 | c.1109T>A | p.Leu370* | exon 3 | Pathogenic, identified in 3 ALD cases (120). Deleterious mutation. |
| 153001595 | c.1111G>T | p.Glu371* | exon 3 | Pathogenic, identified in ALD newborn screening (302). Deleterious mutation. |
| 153001598 | c.1114A>T | p.Lys372* | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001599 | c.1115del | p.Lys372Argfs*7 | exon 3 | Likely pathogenic, identified in a single ALD case (225). |
| 153001601 | c.1117A>T | p.Lys373* | exon 3 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001601 | c.1117A>G | p.Lys373Glu | exon 3 | Benign based on frequency 44/1208728 in non-ALD alleles (323). |
| 153001601 | c.1117_19del | p.Lys373del | exon 3 | VUS, identified in a single ALD case (33), but also with a 10/1210411 frequency in non-ALD alleles (323). |
| 153001609 | c.1126del | p.Glu376Serfs*3 | exon 3 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001610 | c.1126G>C | p.Glu376Gln | exon 3 | Likely benign, based on frequency 10/1210650 in non-ALD alleles (323). |
| 153001610 | c.1126G>T | p.Glu376* | exon 3 | Pathogenic, identified in 2 ALD cases (200, 266). Deleterious mutation. |
| 153001619 | c.1135_36insC | p.Ser379Thrfs*22 | exon 3 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP expression in patient cells (7). |
| 153001621 | c.1137dup | p.Glu380Argfs*21 | exon 3 | Pathogenic, identified in a single ALD case (104). Deleterious mutation. |
| 153001622 | c.1138_1151del | p.Glu380Leufs*16 | exon 3 | Pathogenic, identified in a single ALD case (226). Deleterious mutation. |
| 153001622 | c.1138G>T | p.Glu380* | exon 3 | Pathogenic, identified in a single ALD case (200). Deleterious mutation. |
| 153001622 | c.1138G>A | p.Glu380Lys | exon 3 | Likely benign, identified 2x in ALD newborn screening (284, 334), but also with a frequency 12/1098000 in non-ALD alleles (323). |
| 153001625 | c.1141C>T | p.Arg381Cys | exon 3 | Likely benign, identified in ALD newborn screening (274), but also with a frequency 20/1210361 in non-ALD alleles (323). |
| 153001626 | c.1142G>A | p.Arg381His | exon 3 | Benign, based on frequency 27/1210257 in non-ALD alleles (323). |
| 153001628 | c.1144A>C | p.Thr382Pro | exon 3 | Pathogenic, identified in 2 ALD cases (195). |
| 153001629 | c.1145C>G | p.Thr382Arg | exon 3 | Likely pathogenic, identified in a single ALD case (307). |
| 153001632 | c.1148_1157del | p.Glu383Valfs*7 | exon 3 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001639 | c.1155del | p.Phe385Leufs*8 | exon 3 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 153001643 | c.1159del | p.Ile387Leufs*6 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001647 | c.1163_64insG | p.Arg389Profs*12 | exon 3 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153001649 | c.1165C>G | p.Arg389Gly | exon 3 | Pathogenic, identified in 4 ALD cases (15, 60, 100, 266). |
| 153001649 | c.1165C>T | p.Arg389Cys | exon 3 | Pathogenic, identified in 18 ALD cases (58, 98, 181, 247, 252, 266, 306, 316). |
| 153001650 | c.1166G>A | p.Arg389His | exon 3 | Pathogenic, identified in 47 ALD cases (13, 16, 22, 32, 60, 97, 111, 139, 141, 146, 178, 218, 221, 266, 274, 284, 288, 290, 294, 295). Reduced (41% of control cells) ALDP in patient cells (139, 141, 290). |
| 153001653 | c.1169A>C | p.Asn390Thr | exon 3 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001655 | c.1171_80del | p.Leu391Argfs*16 | exon 3 | Pathogenic, identified in 2 ALD cases (60). Deleterious mutation. |
| 153001655 | c.1171_1178del | p.Leu391Serfs*7 | exon 3 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001656 | c.1172_1175del | p.Leu391Argfs*18 | exon 3 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153001656 | c.1172T>C | p.Leu391Pro | exon 3 | Likely pathogenic, identified in a single ALD case (68). |
| 153001658 | c.1174C>G | p.Leu392Val | exon 3 | Pathogenic, identified in 2 ALD cases (33, 88). |
| 153001658 | c.1174_81delinsAAT | p.Leu392Asnfs*7 | exon 3 | Pathogenic, identified in a single ALD case (130). Deleterious mutation. |
| 153001663 | c.1179_80del | p.Ala394Glyfs*6 | exon 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001664 | c.1180del | p.Ala394Argfs*16 | exon 3 | Pathogenic, identified in 3 ALD cases (120). Deleterious mutation. |
| 153001665 | c.1181C>T | p.Ala394Val | exon 3 | Benign, based on frequency 42/1210439 in non-ALD alleles (323). |
| 153001667 | c.1183del | p.Ala395Leufs*15 | exon 3 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 153001668 | c.1184C>T | p.Ala395Val | exon 3 | VUS, identified 2x in ALD newborn screening (274, 294), but has not yet been associated with disease. |
| 153001670 | c.1186G>A | p.Ala396Thr | exon 3 | Pathogenic, identified in 10 ALD cases (33, 60, 181, 284, 289). No detectable ALDP in patient cells (60). |
| 153001671 | c.1187C>T | p.Ala396Val | exon 3 | Likely pathogenic, identified in a single ALD case (189). |
| 153001671 | c.1187C>A | p.Ala396Glu | exon 3 | Pathogenic, identified in 3 ALD cases within a single family (284). Mutation cosegregates with ALD presentation and elevated VLCFA. |
| 153001676 | c.1192G>A | p.Ala398Thr | exon 3 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001679 | c.1195_1196del | p.Ile399* | exon 3 | Pathogenic, identified in ALD newborn screening (302). Deleterious mutation. |
| 153001685 | c.1201C>T | p.Arg401Trp | exon 3 | Pathogenic, identified in 22 ALD cases (24, 29, 32, 33, 51, 87, 88, 90, 96, 100, 145, 154, 266, 272), 284. |
| 153001685 | c.1201C>G | p.Arg401Gly | exon 3 | Pathogenic, identified in 2 ALD cases (100, 154). |
| 153001686 | c.1202G>A | p.Arg401Gln | exon 3 | Pathogenic, identified in 48 ALD cases (8, 15, 22, 29, 32, 33, 40, 47, 49, 60, 71, 72, 86, 88, 93, 98, 105, 125, 126, 158, 235, 263, 266, 274, 284, 288, 289, 319). Normal ALDP level in patient cells (22, 32, 33, 49, 60, 72), but non-functional. |
| 153001686 | c.1202G>T | p.Arg401Leu | exon 3 | Likely pathogenic, identified in a single ALD case (227). |
| 153001687 | c.1203del | p.Ile402Serfs*8 | exon 3 | Pathogenic, identified in 2 ALD cases (264, 266). Deleterious mutation. |
| 153001689 | c.1205T>A | p.Ile402Asn | exon 3 | Pathogenic, identified in 2 ALD cases (131). No detectable ALDP in patient cells (131). |
| 153001692 | c.1208T>A | p.Met403Lys | exon 3 | Likely pathogenic, identified in a single ALD case (227). |
| 153001693 | c.1209del | p.Met403Ilefs*7 | exon 3 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153001694 | c.1210T>C | p.Ser404Pro | exon 3 | Pathogenic, identified in 3 ALD cases (59, 64, 132). |
| 153001695 | c.1211C>T | p.Ser404Leu | exon 3 | Likely benign, based on frequency 13/1210573 in non-ALD alleles (323). |
| 153001695 | c.1211C>A | p.Ser404* | exon 3 | Pathogenic, identified in a single ALD case (98). Deleterious mutation. |
| 153001697 | c.1213T>C | p.Ser405Pro | exon 3 | Likely pathogenic, identified in a single ALD case (137). |
| 153001698 | c.1214C>A | p.Ser405* | exon 3 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 153001698 | c.1214_16del | p.Ser405del | exon 3 | Pathogenic, identified in 4 ALD cases (84, 287, 332). Likely deleterious mutation. |
| 153001702 | c.1218C>G | p.Tyr406* | exon 3 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 153001703 | c.1219A>T | p.Lys407* | exon 3 | Pathogenic, identified in 3 ALD cases (33, 49, 266). Deleterious mutation. |
| 153001708 | c.1224G>A | p.Val409fs*? | exon 3 | Pathogenic, identified in 4 ALD cases (13, 315, 332). Deleterious mutation. |
| 153001709 | c.1224+1G>T | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (245). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001709 | c.1224+1GT>TG | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (58). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>C | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (64). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>A | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (252). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001710 | c.1224+2T>G | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (103, 318). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001773 | c.1225-26G>T | IVS 3 | Likely benign, based on frequency 9/178416 in non-ALD alleles (323). | |
| 153001792 | c.1225-7_1239del22 | p.Val409fs*? | IVS 3 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001797 | c.1225-2A>C | p.Val409fs*? | IVS 3 | Pathogenic, identified in 2 ALD cases (33, 246). Deleterious mutation. |
| 153001797 | c.1225-2A>G | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (96). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001798 | c.1225-1G>A | p.Val409fs*? | IVS 3 | Likely pathogenic, identified in a single ALD case (274). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153001802 | c.1228A>T | p.Thr410Ser | exon 4 | Likely benign, based on frequency 10/1210733 in non-ALD alleles (323). |
| 153001811 | c.1237G>C | p.Ala413Pro | exon 4 | Likely pathogenic, identified in 3 ALD cases (33, 328). |
| 153001814 | c.1240_1243delGGCT | p.Gly414Thrfs*26 | exon 4 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153001815 | c.1241G>A | p.Gly414Asp | exon 4 | Likely pathogenic, identified in a single ALD case (307). |
| 153001816 | c.1242_1255del | p.Tyr415Alafs*8 | exon 4 | Pathogenic, identified in a single ALD case (211). Deleterious mutation. |
| 153001818 | c.1244A>G | p.Tyr415Cys | exon 4 | Likely pathogenic, identified in a single ALD case (84). |
| 153001820 | c.1246A>C | p.Thr416Pro | exon 4 | Pathogenic, identified in 6 ALD cases within a single family (299). Mutation cosegregates with elevated VLCFA. |
| 153001821 | c.1247C>G | p.Thr416Arg | exon 4 | Pathogenic, identified in 5 ALD cases (284, 313). |
| 153001822 | c.1248del | p.Ala417Profs*24 | exon 4 | Pathogenic, identified in 2 ALD cases (33, 284). Deleterious mutation. |
| 153001824 | c.1250del | p.Arg418Glyfs*23 | exon 4 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP in patient cells (7). |
| 153001826 | c.1252C>T | p.Arg418Trp | exon 4 | Pathogenic, identified in 31 ALD cases (8, 15, 29, 40, 58, 145, 165, 177, 178, 191, 228, 263, 266, 288, 292, 302, 306, 328). Affects ALDP stability in patient cells (33, 58, 165). |
| 153001827 | c.1253G>A | p.Arg418Gln | exon 4 | VUS, identified in 9 ALD newborn screening cases (191, 245, 267, 274, 294, 303) and 3x in the gnomAD database frequency 3/1098147 in non-ALD alleles (323), but has not yet been associated with disease. |
| 153001830 | c.1256T>G | p.Val419Gly | exon 4 | Likely pathogenic, identified in a single ALD case (292). |
| 153001830 | c.1256T>C | p.Val419Ala | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001833 | c.1259A>T | p.His420Leu | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001833 | c.1259A>C | p.His420Pro | exon 4 | Likely pathogenic, identified in a single ALD case (104) and ALD newborn screening (274). |
| 153001834 | c.1260C>A | p.His420Gln | exon 4 | Likely benign, based on frequency 9/1210756 in non-ALD alleles (323). |
| 153001835 | c.1261G>A | p.Glu421Lys | exon 4 | Likely benign, based on frequency 12/1210825 in non-ALD alleles (323). |
| 153001837 | c.1263delG | p.Met422Cysfs*19 | exon 4 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001842 | c.1268T>C | p.Phe423Ser | exon 4 | Likely pathogenic, identified in a single ALD case (145). |
| 153001844 | c.1270C>T | p.Gln424* | exon 4 | Pathogenic, identified in 3 ALD cases (32, 266). Deleterious mutation. |
| 153001844 | c.1270C>G | p.Gln424Glu | exon 4 | VUS, reported in combination with a pathogenic mutation (289). |
| 153001844 | c.1270delC | p.Gln424Argfs*17 | exon 4 | Pathogenic, identified in a single ALD case (52). Deleterious mutation. |
| 153001845 | c.1271_1275del | p.Gln424Leufs*2 | exon 4 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153001849 | c.1275delA | p.Phe426Leufs*15 | exon 4 | Pathogenic, identified in a single ALD case (314). Deleterious mutation. |
| 153001853 | c.1279_81del | p.Glu427del | exon 4 | Likely pathogenic, identified in a single ALD case (49). |
| 153001860 | c.1287del | p.Gln430Serfs*11 | exon 4 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001862 | c.1288C>T | p.Gln430* | exon 4 | Pathogenic, identified in 4 ALD cases (49, 266, 274). Deleterious mutation. |
| 153001862 | c.[1288C>T; 1390C>T] | p.[Gln430*; Arg464*] | exon 4 + exon 4 | Pathogenic, identified in a single ALD case (33). Two deleterious mutations. |
| 153001871 | c.1297C>G | p.His433Asp | exon 4 | Benign, confirmed by normal plasma VLCFA levels (284). |
| 153001889 | c.1315G>T | p.Glu439* | exon 4 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153001896 | c.1322dupA | p.Asp442Glyfs*114 | exon 4 | Pathogenic, identified in 3 ALD cases (141, 290). Deleterious mutation. No detectable ALDP in patient cells (141, 290). |
| 153001901 | c.1327G>A | p.Ala443Thr | exon 4 | Likely benign, based on frequency 17/1210775 in non-ALD alleles (323). |
| 153001904 | c.1330C>T | p.Gln444* | exon 4 | Pathogenic, identified in 4 ALD cases (32, 60, 289). Deleterious mutation. |
| 153001908 | c.1334C>T | p.Ala445Val | exon 4 | Benign, identified in ALD newborn screening (274), but also with a frequency of 36/1210718 in non-ALD alleles (323). |
| 153001928 | c.1354C>T | p.Arg452Trp | exon 4 | Benign, based on frequency of 124/1210659 in non-ALD alleles (323). |
| 153001929 | c.1355G>A | p.Arg452Gln | exon 4 | Benign, based on frequency 9/1210678 in non-ALD alleles (323) and confirmed by normal plasma VLCFA levels and C26:0-lysoPC (200, 291) and a negative family history. |
| 153001932 | c.1358delinsGA | p.Ser453* | exon 4 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153001933 | c.1359delT | p.Gly454Valfs*8 | exon 4 | Pathogenic, identified in 2 ALD cases (60, 266). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153001940 | c.1366dup | p.Arg456Profs*100 | exon 4 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153001941 | c.1367del | p.Arg456Leufs*6 | exon 4 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153001941 | c.1367G>A | p.Arg456His | exon 4 | Benign, based on frequency 27/1097885 in non-ALD alleles (323). |
| 153001946 | c.1372G>T | p.Glu458* | exon 4 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 153001950 | c.1376dup | p.Leu461Profs*95 | exon 4 | Pathogenic, identified in a single ALD case (336). Deleterious mutation. |
| 153001956 | c.1382del | p.Leu461Argfs*97 | exon 4 | Pathogenic, identified in a single ALD case (228). Deleterious mutation |
| 153001960 | c.1386del | p.Ile463Serfs*95 | exon 4 | Pathogenic, identified in a single ALD case (306). Deleterious mutation |
| 153001964 | c.1390C>T | p.Arg464* | exon 4 | Pathogenic, identified in 25 ALD cases (6, 32, 33, 47, 49, 59, 62, 64, 96, 105, 132, 141, 266, 280, 290, 294, 302). Deleterious mutation. No detectable ALDP in patient cells (6, 32, 77, 141, 290). |
| 153001964 | c.1390_91insA | p.Arg464Glnfs*92 | exon 4 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153001965 | c.1391G>A | p.Arg464Gln | exon 4 | Likely benign based on frequency 13/1209516 in non-ALD alleles (323). |
| 153001967 | c.1393G>A | p.Gly465Ser | exon 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153001968 | c.1393+1G>A | p.Val425fs*92 | IVS 4 | Pathogenic, identified in 2 ALD cases (135, 288). Activation of cryptic spice site, confirmed by functional studies (135). |
| 153001968 | c.1393+1G>T | IVS 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. | |
| 153001969 | c.1393+2T>A | p.Phe426Argfs*92 | IVS 4 | Pathogenic, identified in 7 ALD cases (159, 252). Activation of cryptic spice site, confirmed by functional studies (159). |
| 153002609 | c.1394-2A>G | p.Gly465fs*? | IVS 4 | Pathogenic, identified in 4 ALD cases (32, 71, 75, 209). Activation of cryptic spice site, confirmed by functional studies (75). |
| 153002610 | c.1394-1G>C | IVS 4 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. | |
| 153002613 | c.1396C>T | p.Gln466* | exon 5 | Pathogenic, identified in 4 ALD cases (13, 32, 158, 266). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153002616 | c.1399G>A | p.Val467Met | exon 5 | Likely benign, based on frequency 17/1210886 in non-ALD alleles (323) |
| 153002617 | c.1400_05del | p.Val467_Val468del | exon 5 | Pathogenic, identified in 2 ALD cases (143). |
| 153002628 | c.1411G>C | p.Glu471Gln | exon 5 | Benign, based on frequency 28/1097661 in non-ALD alleles (323) |
| 153002628 | c.1411_12insA | p.Gln472Thrfs*84 | exon 5 | Pathogenic, identified in 2 ALD cases (13). Deleterious mutation. |
| 153002629 | c.1412_13del | p.Glu471Alafs*84 | exon 5 | Pathogenic, identified in 2 ALD cases (13). Deleterious mutation. |
| 153002631 | c.1414C>T | p.Gln472* | exon 5 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153002631 | c.1414dupC | p.Gln472Profs*84 | exon 5 | Pathogenic, identified in a single ALD case (47). Deleterious mutation. |
| 153002632 | c.1415_16delAG | p.Gln472Argfs*83 | exon 5 | Pathogenic, identified in 185 ALD cases (1, 7, 8, 10, 13, 15, 16, 22, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 64, 85, 86, 88, 90, 93, 100, 105, 108, 110, 119, 120, 125, 132, 145, 146, 158, 164, 169, 174, 178, 191, 214, 218, 228, 235, 239, 252, 258, 266, 274, 274, 284, 286, 289, 290, 292, 294 302, 306, 311, 316, 319, 325, 328, 332, 335). Deleterious mutation. No detectable ALDP in patient cells (7, 22, 32, 36, 53, 58, 60, 146). |
| 153002633 | c.1416_17del | p.Gly473Aspfs*82 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002637 | c.1420del | p.Ile474Serfs*84 | exon 5 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells(60). |
| 153002638 | c.1421T>C | p.Ile474Thr | exon 5 | Pathogenic, identified in 4 ALD cases (33, 88, 125). |
| 153002639 | c.1422_26del | p.Ile474Metfs*80 | exon 5 | Pathogenic, identified in a single ALD case (66). Deleterious mutation. |
| 153002645 | c.1428C>A | p.Cys476* | exon 5 | Pathogenic, identified in a single ALD case (125). Deleterious mutation. |
| 153002646 | c.1429G>A | p.Glu477Lys | exon 5 | Likely benign, based on frequency 11/1210992 in non-ALD alleles (323). |
| 153002646 | c.1429G>T | p.Glu477* | exon 5 | Pathogenic, identified in 6 ALD cases (8, 15, 33, 266, 274). Deleterious mutation. |
| 153002647 | c.1430del | p.Glu477Glyfs*81 | exon 5 | Pathogenic, identified in 3 ALD cases (91, 100). Deleterious mutation. |
| 153002653 | c.1436del | p.Ile479Thrfs*79 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002655 | c.1438C>A | p.Pro480Thr | exon 5 | Benign, confirmed by biochemical testing (normal plasma VLCFA and C26:0-lysoPC) (290) and functional testing in fibroblasts showing normal results (290). |
| 153002656 | c.1439C>G | p.Pro480Arg | exon 5 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 153002657 | c.1440del | p.Ile481Serfs*77 | exon 5 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153002658 | c.1441A>T | p.Ile481Phe | exon 5 | Likely pathogenic, identified in a single ALD case (100). |
| 153002661 | c.1444G>A | p.Val482Ile | exon 5 | Benign based on frequency 57/1210964 in non-ALD alleles (323). |
| 153002662 | c.1445T>A | p.Val482Asp | exon 5 | Likely pathogenic, identified in a single ALD case (142). |
| 153002664 | c.1447dup | p.Thr483Asnfs*73 | exon 5 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153002665 | c.1448C>T | p.Thr483Met | exon 5 | VUS, identified 11 times in ALD newborn screening (274, 284, 290, 294, 312), and 6x (frequency 6/1097492) in non-ALD alleles (323). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease, but has not yet been associated with disease. |
| 153002667 | c.1450C>G | p.Pro484Ala | exon 5 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153002668 | c.1451C>G | p.Pro484Arg | exon 5 | Pathogenic, identified in 6 ALD cases (3, 325), reduced (below 15%) ALDP in patient cells (325). |
| 153002669 | c.1452_1482del | p.Glu487Trpfs*61 | exon 5 | Pathogenic, identified in a single ALD case (239). Deleterious mutation. |
| 153002671 | c.1454C>G | p.Ser485* | exon 5 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153002671 | c.1454C>A | p.Ser485* | exon 5 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 153002672 | c.1455_59delinsGGGA | p.Glu487Argfs*71 | exon 5 | Pathogenic, identified in 2 ALD cases (33, 328). Deleterious mutation. |
| 153002679 | c.1462G>A | p.Val488Met | exon 5 | Likely benign, based on frequency 11/1210992 in non-ALD alleles (323) |
| 153002679 | c.1462_63insTGG | p.Val488_Val489insVal | exon 5 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153002686 | c.1469_71del | p.Val490del | exon 5 | Pathogenic, identified in 2 ALD cases (33, 274). Likely a deleterious mutation. |
| 153002687 | c.1470_71insGTG | p.Val490_Ala491insVal | exon 5 | Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7). |
| 153002694 | c.1477_1488+11del | p.Leu493_Arg496del | exon 5 | Likely pathogenic, identified in a single ALD case (108). |
| 153002695 | c.1478T>C | p.Leu493Pro | exon 5 | Pathogenic, identified in 4 ALD cases (33, 88, 235). |
| 153002698 | c.1481del | p.Asn494Thrfs*64 | exon 5 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153002704 | c.1487G>C | p.Arg496Thr | exon 5 | Likely benign, based on frequency 17/1208651 in non-ALD alleles (323) |
| 153002706 | c.1488+1G>A | p.Val497fs*? | IVS 5 | Pathogenic, identified in 4 ALD cases (33, 40, 200, 266). Deleterious mutation. |
| 153002708 | c.1488+3A>G | p.Val497fs*? | IVS 5 | Pathogenic, identified in 4 ALD cases (245, 290). No detectable ALDP in patient cells (290). |
| 153005536 | c.1489-10delC | IVS 5 | Benign, based on its frequency of 1374/197671 in non-ALD alleles (323). East-Asian specific polymorphism (1286/13873 in non-ALD alleles) confirmed by pedigree analysis (68). | |
| 153005540 | c.1489-6delC | IVS 5 | Benign, based on its frequency of 1466/202516 in non-ALD alleles (323). East-Asian specific polymorphism (1286/13873 in non-ALD alleles) confirmed by pedigree analysis (68). | |
| 153005544 | c.1489-2A>G | p.Val497fs*? | IVS 5 | Likely pathogenic, identified in a single ALD case (198). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153005545 | c.1489-1G>A | p.Val497Alafs*51 | IVS 5 | Pathogenic, identified in a single ALD case (322). Activation of cryptic splice site in exon 6, confirmed by functional studies (322). Deleterious mutation. |
| 153005545 | c.1489-1_1489delinsTT | p.Val497fs*? | IVS 5 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153005554 | c.1497_1505del | p.Glu499_His502delinsAsp | exon 6 | Likely pathogenic, identified in a single ALD case (105). |
| 153005556 | c.1499G>T | p.Gly500Val | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005558 | c.1501A>C | p.Met501Leu | exon 6 | Pathogenic, identified in a single ALD case (60). Normal ALDP level in patient cells (60), but non-functional |
| 153005558 | c.1501A>T | p.Met501Leu | exon 6 | Pathogenic (same consequence as 1501A>C), but no clinical info provided (266). Deleterious mutation. |
| 153005559 | c.1502del | p.Met501Serfs*57 | exon 6 | Pathogenic, identified in a single ALD case (197). Deleterious mutation. |
| 153005562 | c.1505_10del | p.His502_Leu503del | exon 6 | Likely pathogenic, identified in a single ALD case (58). |
| 153005562 | c.1505_06insC | p.Leu503Serfs*53 | exon 6 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153005565 | c.1508T>C | p.Leu503Pro | exon 6 | Likely pathogenic, identified in a single ALD case (146). |
| 153005565 | c.1508_09insC | p.Leu504Alafs*52 | exon 6 | Pathogenic, identified in a single ALD case (27). Deleterious mutation. |
| 153005571 | c.1514T>C | p.Ile505Thr | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005572 | c.1515C>G | p.Ile505Met | exon 6 | Pathogenic, identified in 4 ALD cases (32, 58). Affects ALDP stability in patient cells (32, 58). |
| 153005572 | c.1515_19delinsGCA | p.Ile505Metfs*50 | exon 6 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. |
| 153005573 | c.1516dup | p.Thr506Asnfs*50 | exon 6 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153005574 | c.1517C>T | p.Thr506Ile | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005576 | c.1519G>A | p.Gly507Ser | exon 6 | Pathogenic, identified in 4 ALD cases (32, 292). |
| 153005577 | c.1520G>A | p.Gly507Asp | exon 6 | Pathogenic, identified in 2 ALD cases (68, 88). |
| 153005577 | c.1520G>T | p.Gly507Val | exon 6 | Likely pathogenic, identified in a single ALD case (24). |
| 153005579 | c.1522C>T | p.Pro508Ser | exon 6 | Pathogenic, identified in 2 ALD cases (306) and in ALD newborn screening (238). |
| 153005580 | c.1523C>T | p.Pro508Leu | exon 6 | Pathogenic, identified in 5 ALD cases (93, 289, 306). |
| 153005583 | c.1526A>C | p.Asn509Thr | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005583 | c.1526A>G | p.Asn509Ser | exon 6 | VUS, identified 4x in ALD newborn screening (274) and reported 8x (frequency 8/1209600 alleles) in non-ALD alleles (323), but has not yet been associated with disease. |
| 153005583 | c.1526A>T | p.Asn509Ile | exon 6 | Pathogenic, identified in 4 ALD cases (33, 64, 132, 137). |
| 153005585 | c.1528G>A | p.Gly510Ser | exon 6 | Pathogenic, identified in 2 ALD cases (33, 100). |
| 153005586 | c.1529del | p.Gly510Alafs*48 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005586 | c.1529G>A | p.Gly510Asp | exon 6 | Pathogenic, identified in 5ALD cases (33, 59, 64, 132, 137). |
| 153005588 | c.1531T>C | p.Cys511Arg | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005589 | c.1532G>A | p.Cys511Tyr | exon 6 | Pathogenic, identified in 2 ALD cases (33, 137). |
| 153005590 | c.1533C>A | p.Cys511* | exon 6 | Pathogenic, identified in 2 ALD cases (33, 49). Deleterious mutation. |
| 153005590 | c.1533C>G | p.Cys511Trp | exon 6 | Likely pathogenic, identified in a single ALD case (137) and ALD newborn screening (294). |
| 153005591 | c.1534G>T | p.Gly512Cys | exon 6 | Likely pathogenic, identified in a single ALD case (47). |
| 153005591 | c.1534G>A | p.Gly512Ser | exon 6 | Pathogenic, identified in 49 ALD cases (7, 13, 23, 27, 33, 53, 57, 58, 76, 88, 93, 100, 108, 121, 124, 153, 154, 158, 178, 181, 185, 191, 215, 235, 240, 250, 266, 274, 280, 282, 289, 297, 306, 328). No detectable ALDP in patient cells (7, 23, 53, 58, 260). Mutation results in reduced ATPase activity (194) and reduced protein half-life (260). |
| 153005592 | c.1535G>A | p.Gly512Asp | exon 6 | Pathogenic, identified in 4 ALD cases (229). |
| 153005594 | c.1537A>T | p.Lys513* | exon 6 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153005594 | c.1537A>C | p.Lys513Gln | exon 6 | Pathogenic, identified in 3 ALD cases (33, 69, 288). |
| 153005595 | c.1538A>C | p.Lys513Thr | exon 6 | Benign based on frequency 23/1093309 in non-ALD alleles (323) |
| 153005595 | c.1538A>G | p.Lys513Arg | exon 6 | Pathogenic, identified in 3 ALD cases (58, 125, 289). No detectable ALDP in patient cells (58). |
| 153005597 | c.1540A>C | p.Ser514Arg | exon 6 | Pathogenic, identified in 5 ALD cases (145, 226, 263). |
| 153005597 | c.1540A>G | p.Ser514Gly | exon 6 | Likely pathogenic, identified in a single ALD case (32). |
| 153005598 | c.1541G>T | p.Ser514Ile | exon 6 | Pathogenic, identified in 2 ALD cases (88). |
| 153005598 | c.1541G>A | p.Ser514Asn | exon 6 | Pathogenic, identified in 4 ALD cases (58, 145, 274). Affects ALDP stability in patient cells (58). Mutation affects protein-protein interaction (262). |
| 153005601 | c.1544C>A | p.Ser515Tyr | exon 6 | Likely pathogenic, identified in a single ALD case (125). |
| 153005601 | c.1544C>T | p.Ser515Phe | exon 6 | Pathogenic, identified in 12 ALD cases (8, 51, 112, 179, 318). |
| 153005603 | c.1546_1547del | p.Leu516Valfs*39 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005604 | c.1547T>C | p.Leu516Pro | exon 6 | Pathogenic, identified in 6 ALD cases (33, 58, 71, 225, 289). No detectable ALDP in patient cells (58). |
| 153005608 | c.1551del | p.Arg518Glyfs*40 | exon 6 | Pathogenic, identified in 2 ALD cases (6, 33). Deleterious mutation. |
| 153005609 | c.1552del | p.Arg518Glyfs*40 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005609 | c.1552C>G | p.Arg518Gly | exon 6 | Pathogenic, identified in 5 ALD cases (59, 64, 132, 137, 266). |
| 153005609 | c.1552C>T | p.Arg518Trp | exon 6 | Pathogenic, identified in 28 ALD cases (6, 7, 32, 33, 53, 58, 88, 90, 125, 133, 137, 227, 274, 281, 289, 319). No detectable ALDP in patient cells (7, 58). |
| 153005610 | c.1553G>A | p.Arg518Gln | exon 6 | Pathogenic, identified in 60 ALD cases (9, 24, 32, 33, 48, 49, 53, 58, 59, 60, 64, 88, 90, 96, 100, 105, 108, 120, 132, 137, 154, 191, 227, 243, 256, 266, 274, 284, 289, 319, 328, 332). No detectable ALDP in patient cells (9, 32, 49, 53, 58, 60). |
| 153005610 | c.1553G>C | p.Arg518Pro | exon 6 | Likely pathogenic, identified in a single ALD case (230). |
| 153005616 | c.1559T>A | p.Leu520Gln | exon 6 | Pathogenic, identified in 5 ALD cases (54, 59, 64, 132, 137). |
| 153005616 | c.1559T>C | p.Leu520Pro | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005619 | c.1562G>A | p.Gly521Asp | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005620 | c.1563_1574delinsAGCACA | p.Gly522_Pro525delinsAlaHis | exon 6 | Pathogenic, identified in a single ALD case (284). Deleterious mutation. |
| 153005621 | c.1564G>A | p.Gly522Arg | exon 6 | Pathogenic, identified in 2 ALD cases (7, 58). No detectable ALDP in patient cells (7, 58). |
| 153005623 | c.1566dup | p.Leu523Alafs*33 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005624 | c.1567C>T | p.Leu523Phe | exon 6 | Pathogenic, identified in 3 ALD cases (96, 235, 328), confirmed by biochemical testing. No detectable ALDP in patient cells (290). |
| 153005625 | c.1568T>C | p.Leu523Pro | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005627 | c.1570T>C | p.Trp524Arg | exon 6 | Likely pathogenic, identified in a single ALD case (33). |
| 153005628 | c.1571G>A | p.Trp524* | exon 6 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153005630 | c.1573C>A | p.Pro525Thr | exon 6 | VUS, identified in ALD newborn screening (297), but has not yet been associated with disease. |
| 153005630 | c.1573C>T | p.Pro525Ser | exon 6 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153005634 | c.1577C>G | p.Thr526Arg | exon 6 | Likely pathogenic, identified in 1 ALD case (284) and in ALD newborn screening (191). |
| 153005638 | c.1581C>A | p.Tyr527* | exon 6 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 153005639 | c.1582G>A | p.Gly528Ser | exon 6 | Benign, confirmed by biochemical testing (144). Frequency 40/1210480 in non-ALD alleles (323). |
| 153005642 | c.1585G>A | p.Gly529Ser | exon 6 | Pathogenic, identified in 2 ALD cases (38, 200). |
| 153005642 | c.1585_87del | p.Gly529del | exon 6 | Pathogenic, identified in 2 ALD cases (4, 105) and 1x in ALD newborn screening (297). |
| 153005642 | c.1585delG | p.Gly529Valfs*29 | exon 6 | Pathogenic, identified in 2 ALD cases (21, 62). Deleterious mutation. |
| 153005643 | c.1586_90del | p.Gly529Valfs*25 | exon 6 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 153005643 | c.1586G>A | p.Gly529Asp | exon 6 | Pathogenic, identified in 2 ALD cases (33). |
| 153005649 | c.1592_93insT | p.Tyr532Leufs*24 | exon 6 | Pathogenic, identified in a single ALD case (38). Deleterious mutation. |
| 153005654 | c.1597A>C | p.Lys533Gln | exon 6 | VUS, identified 10 times in ALD newborn screening (181, 243, 267, 274), 3x an incidental finding (307, 308) and reported 2x in the gnomAD database (323) frequency 2/753326 in non-ALD alleles, but has not yet been associated with disease. |
| 153005654 | c.1597A>G | p.Lys533Glu | exon 6 | Pathogenic, identified in 2 ALD cases (33, 60). No detectable ALDP in patient cells (60). |
| 153005655 | c.1598A>G | p.Lys533Arg | exon 6 | Likely pathogenic, identified in a single ALD case (183). |
| 153005655 | c.1598_99insA | p.Pro534Alafs*22 | exon 6 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153005656 | c.1599G>T | p.Lys533Asn | exon 6 | Pathogenic, identified in 2 ALD cases (84, 237). Pathogenicity confirmed by in silico molecular modeling (237). |
| 153005656 | c.1599delG | p.Lys533Asnfs*25 | exon 6 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. No detectable ALDP in patient cells (49). |
| 153005657 | c.1600C>T | p.Pro534Ser | exon 6 | Likely pathogenic, identified in a single ALD case (33) and 2x in ALD newborn screening (191, 297). |
| 153005658 | c.1601C>T | p.Pro534Leu | exon 6 | Pathogenic, identified in 2 ALD cases (23, 191, 200). No detectable ALDP in patient cells (23, 200). |
| 153005658 | c.1601C>G | p.Pro534Arg | exon 6 | Pathogenic, identified in 5 ALD cases (67, 86, 93, 132, 137). |
| 153005660 | c.1603_04del | p.Pro535Thrfs*20 | exon 6 | Pathogenic, identified in 3 ALD cases (59, 64, 132). Deleterious mutation. |
| 153005660 | c.1603_1991del | p.Pro535Glufs*69 | exon 6 | Pathogenic, identified in 7 ALD cases (16, 32). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153005661 | c.1604del | p.Pro535Hisfs*23 | exon 6 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153005663 | c.1606C>T | p.Pro536Ser | exon 6 | Likely benign, based on frequency 9/640747 in non-ALD alleles (323) |
| 153005664 | c.1607C>A | p.Pro536His | exon 6 | Likely pathogenic, identified in a single ALD case (84). |
| 153005666 | c.1609C>T | p.Gln537* | exon 6 | Pathogenic, identified in 5 ALD cases (96, 235, 250, 328). Deleterious mutation. |
| 153005669 | c.1612C>T | p.Arg538Cys | exon 6 | Likely benign, based on frequency 13/1098022 in non-ALD alleles (323) |
| 153005670 | c.1613G>A | p.Arg538His | exon 6 | Likely benign, based on frequency 10/1097959 in non-ALD alleles (323) |
| 153005671 | c.1614_1640dup | p.Met548_Ser549insFYIPQRPY | exon 6 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153005676 | c.1619T>C | p.Phe540Ser | exon 6 | Pathogenic, identified in 3 ALD cases (24, 232). |
| 153005676 | c.1619T>G | p.Phe540Cys | exon 6 | Likely pathogenic, identified in a single ALD case (96). |
| 153005677 | c.1620C>G | p.Phe540Leu | exon 6 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153005678 | c.1621_1628del | p.Tyr541Alafs*12 | exon 6 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153005679 | c.1622A>G | p.Tyr541Cys | exon 6 | VUS, identified in ALD newborn screening (298), but has not yet been associated with disease. |
| 153005681 | c.1624A>G | p.Ile542Val | exon 6 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153005681 | c.1624_26del | p.Ile542del | exon 6 | Likely pathogenic, identified in a single ALD case (68). Likely a deleterious mutation. |
| 153005684 | c.1627C>T | p.Pro543Ser | exon 6 | Likely pathogenic, identified in a single ALD case (222). |
| 153005685 | c.1628C>G | p.Pro543Arg | exon 6 | Likely pathogenic, identified in a single ALD case (258). |
| 153005685 | c.1628C>T | p.Pro543Leu | exon 6 | Pathogenic, identified in 53 ALD cases (27, 29, 32, 33, 40, 49, 60, 65, 114, 139, 141, 145, 158, 178, 208, 214, 227, 228, 266, 274, 289, 292, 332). No detectable ALDP in patient cells (32, 49, 60, 139, 141). |
| 153005685 | c.1628delC | p.Pro543Argfs*15 | exon 6 | Pathogenic, identified in 4 ALD cases (33, 266, 294, 299). Deleterious mutation. |
| 153005685 | c.1628_34dup | p.Arg545Serfs*13 | exon 6 | Pathogenic, identified in 2 ALD cases (32, 49). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153005687 | c.1630C>A | p.Gln544Lys | exon 6 | Pathogenic, identified in a single ALD case (58). Affects ALDP stability in patient cells (58). |
| 153005688 | c.1631A>G | p.Gln544Arg | exon 6 | Pathogenic, identified in 9 ALD cases (9, 24, 33, 88, 90, 252, 266). Normal ALDP level in patient cells (9), but non-functional (261). |
| 153005690 | c.1633A>T | p.Arg545Trp | exon 6 | Likely pathogenic, identified in a single ALD case (53). |
| 153005692 | c.1634+1G>A | p.Pro546fs*? | IVS 6 | Pathogenic, identified in 4 ALD cases (6, 49, 60, 132). Deleterious mutation. |
| 153005692 | c.1634+1G>C | p.Pro546fs*? | IVS 6 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153006013 | c.1635-16_1645delins CACAGACATGTAGGGC | p.Pro546fs*? | IVS 6 | Pathogenic, identified in a single ALD case (243). Deleterious mutation. |
| 153006026 | c.1635-2A>G | p.Pro546fs*? | IVS 6 | Pathogenic, identified in 5 ALD cases (11, 32). Deleterious mutation. No detectable ALDP in patient cells (32) due to splicing defect (11). |
| 153006027 | c.1635-1G>A | p.Pro546fs*? | IVS 6 | Likely pathogenic, identified in a single ALD case (266). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153006033 | c.1640A>G | p.Tyr547Cys | exon 7 | Pathogenic, identified in 3 ALD cases (33, 104, 124). No detectable ALDP in patient cells (104). |
| 153006035 | c.1642A>G | p.Met548Val | exon 7 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153006044 | c.1651G>T | p.Gly551Cys | exon 7 | Likely pathogenic, identified in a single ALD case (332). |
| 153006045 | c.1652G>C | p.Gly551Ala | exon 7 | Likely pathogenic, identified in a single ALD case (306), and in ALD newborn screening (274). |
| 153006045 | c.1652G>A | p.Gly551Asp | exon 7 | Likely pathogenic, identified in a single ALD case (328). |
| 153006046 | c.1653insG | p.Ser552Valfs*3 | exon 7 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153006047 | c.1654T>C | p.Ser552Pro | exon 7 | Pathogenic, identified in 2 ALD cases (28, 33). |
| 153006048 | c.1657del | p.Leu553Cysfs*5 | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006050 | c.1657C>G | p.Leu553Val | exon 7 | Likely pathogenic, identified in a single ALD case (33). |
| 153006053 | c.1660C>A | p.Arg554Ser | exon 7 | Pathogenic, identified in 3 ALD cases (1 male, 2 females from a single family confirmed by biochemical testing) (307) and 2x in ALD newborn screening (274). |
| 153006053 | c.1660dup | p.Arg554Profs*2 | exon 7 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153006054 | c.1661G>A | p.Arg554His | exon 7 | Pathogenic, identified in 72 ALD cases (28, 29, 32, 33, 49, 52, 58, 59, 60, 62, 64, 87, 88, 97, 100, 102, 107, 108, 111, 120, 132, 137, 145, 178, 191, 213, 235, 238, 266, 273, 276, 289, 294, 312) and a chimpanzee with ALD (270). No detectable (1% of controls (97)) ALDP in patient cells (32, 49, 58, 60, 97, 102). |
| 153006056 | c.1663G>A | p.Asp555Asn | exon 7 | Likely pathogenic, identified in a single ALD case (52). |
| 153006057 | c.1664A>G | p.Asp555Gly | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006059 | c.1666C>T | p.Gln556* | exon 7 | Pathogenic, identified in 2 ALD cases (58, 245). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153006060 | c.1667A>G | p.Gln556Arg | exon 7 | Pathogenic, identified in 5 ALD cases (40, 59, 64, 132, 137). |
| 153006063 | c.1670T>C | p.Val557Ala | exon 7 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153006063 | c.1670_71del | p.Val557Aspfs*43 | exon 7 | Pathogenic, identified in 2 ALD cases (49, 266). Deleterious mutation. |
| 153006066 | c.1673T>C | p.Ile558Thr | exon 7 | Likely pathogenic, identified in a single ALD case (72). Normal ALDP level in patient cells (72). |
| 153006068 | c.1675T>C | p.Tyr559His | exon 7 | Likely pathogenic, identified in a single ALD case (178). |
| 153006069 | c.1676A>G | p.Tyr559Cys | exon 7 | Pathogenic, identified in 4 ALD cases (32, 33). |
| 153006070 | c.1677C>A | p.Tyr559* | exon 7 | Pathogenic (same consequence as c.1677C>G), but no clinical info provided (266). Deleterious mutation. |
| 153006070 | c.1677C>G | p.Tyr559* | exon 7 | Pathogenic, identified in a single ALD case (122). Deleterious mutation. |
| 153006071 | c.1678C>G | p.Pro560Ala | exon 7 | Likely pathogenic, identified in a single ALD case (289). |
| 153006071 | c.1678C>T | p.Pro560Ser | exon 7 | Likely pathogenic, identified in a single ALD case (49). |
| 153006072 | c.1679C>T | p.Pro560Leu | exon 7 | Pathogenic, identified in 45 ALD cases (4, 7, 24, 32, 33, 49, 71, 86, 88, 90, 93, 96, 100, 108, 111, 136, 145, 158, 165, 263, 266, 288, 292, 315, 318, 325). Affects ALDP stability in patient cells (7, 32, 33, 49) to below 5% (325). |
| 153006072 | c.1679C>G | p.Pro560Arg | exon 7 | Pathogenic, identified in a single ALD case (7). No detectable ALDP in patient cells (7). |
| 153006074 | c.1681G>A | p.Asp561Asn | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006075 | c.1682A>T | p.Asp561Val | exon 7 | Pathogenic, identified in 3 ALD cases (60). No detectable ALDP in patient cells (60). |
| 153006077 | c.1684T>C | p.Ser562Pro | exon 7 | VUS, identified 2x in ALD newborn screening (267, 274), but has not yet been associated with disease. |
| 153006083 | c.1690del | p.Glu564Argfs*72 | exon 7 | Pathogenic, identified in ALD newborn screening (294). Deleterious mutation. |
| 153006088 | c.1695del | p.Asp565Glufs*71 | exon 7 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153006089 | c.1696A>G | p.Met566Val | exon 7 | VUS, identified 2x in ALD newborn screening (274, 290). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153006090 | c.1697T>A | p.Met566Lys | exon 7 | Pathogenic, identified in 2 ALD cases (13). No detectable ALDP in patient cells (33). |
| 153006090 | c.1697T>C | p.Met566Thr | exon 7 | Pathogenic, identified in 2 ALD cases (58, 225). No detectable ALDP in patient cells (58). |
| 153006092 | c.1699C>T | p.Gln567* | exon 7 | Pathogenic, identified in 3 ALD cases (33, 60, 266). Deleterious mutation. |
| 153006099 | c.1706A>G | p.Lys569Arg | exon 7 | Benign, based on demonstration of normal plasma VLCFA levels in plasma in a male (284) |
| 153006101 | c.1708_1709delGG | p.Gly570Leufs*30 | exon 7 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153006106 | c.1713C>G | p.Tyr571* | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006107 | c.1714T>C | p.Ser572Pro | exon 7 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153006107 | c.1714_25del | p.Ser572_Asp575del | exon 7 | Pathogenic, identified in 2 ALD cases (81, 104). |
| 153006108 | c.1715C>A | p.Ser572* | exon 7 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153006108 | c.1715C>G | p.Ser572Trp | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006110 | c.1717delG | p.Glu573Serfs*63 | exon 7 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153006113 | c.1720C>T | p.Gln574* | exon 7 | Pathogenic, identified in 3 ALD cases (53, 58, 289). Deleterious mutation. No detectable ALDP in patient cells (53, 58). |
| 153006119 | c.1726dup | p.Leu576Profs*25 | exon 7 | Pathogenic, identified in a single ALD case (120). Deleterious mutation. |
| 153006120 | c.1727T>C | p.Leu576Pro | exon 7 | Pathogenic, identified in 4 ALD cases (93, 98, 132, 137). |
| 153006122 | c.1729G>T | p.Glu577* | exon 7 | Pathogenic, identified in a single ALD case (100). Deleterious mutation. |
| 153006124 | c.1731del | p.Ala578Profs*58 | exon 7 | Pathogenic, identified in a single ALD case (105). Deleterious mutation. |
| 153006125 | c.1732G>A | p.Ala578Thr | exon 7 | Likely benign, based on frequency 10/1096431 in non-ALD alleles (323). |
| 153006129 | c.1736T>C | p.Ile579Thr | exon 7 | VUS, identified 2x in ALD newborn screening (302, 334), but has not yet been associated with disease. |
| 153006137 | c.1744G>A | p.Val582Ile | exon 7 | Likely benign, based on frequency of 10/154501 in non-ALD alleles (X-153006137-G-A). |
| 153006139 | c.1746del | p.Val583Cysfs*53 | exon 7 | Pathogenic, identified in 2 ALD cases (27, 158). Deleterious mutation. |
| 153006140 | c.1747G>C | p.Val583Leu | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006140 | c.1747G>A | p.Val583Met | exon 7 | VUS, identified 9x in ALD newborn screening (191, 274, 284, 297), and reported 3x in the gnomAD database (frequency 3/112667 in non-ALD alleles (323), but has not yet been associated with disease. |
| 153006140 | c.1747_1759del | p.Val583Thrfs*49 | exon 7 | Pathogenic, identified in a single ALD case (145). Deleterious mutation. |
| 153006141 | c.1748T>C | p.Val583Ala | exon 7 | Benign, based on its frequency of 114/1209082 in non-ALD alleles (323). |
| 153006141 | c.1748T>A | p.Val583Glu | exon 7 | Identified in a single ALD case (231), but benign based on its frequency of 15/153962 in non-ALD alleles (323). |
| 153006141 | c.1748T>G | p.Val583Gly | exon 7 | Likely pathogenic, identified in a single ALD case (33). |
| 153006146 | c.1753del | p.Leu585Cysfs*51 | exon 7 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153006147 | c.1754T>C | p.Leu585Pro | exon 7 | Likely pathogenic, identified in a single ALD case (68). |
| 153006148 | c.1755del | p.His586Thrfs*50 | exon 7 | Pathogenic, identified in a single ALD case (62). Deleterious mutation. |
| 153006150 | c.1757_1771dup | p.His586_Gln590dup | exon 7 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153006152 | c.1759_61dup | p.His587dup | exon 7 | Likely pathogenic, identified in a single ALD case (125). |
| 153006152 | c.1759_70del12 | p.His587_Gln590del | exon 7 | Pathogenic, identified in a single ALD case (24). |
| 153006158 | c.1765del | p.Leu589Cysfs*47 | exon 7 | Pathogenic, identified in a single ALD case (49). Deleterious mutation. |
| 153006161 | c.1768C>T | p.Gln590* | exon 7 | Pathogenic, identified in 10 ALD cases (20, 88, 176, 266, 333). Deleterious mutation. |
| 153006164 | c.1771del | p.Arg591Glyfs*45 | exon 7 | Pathogenic, identified in 2 ALD cases (33, 284). Deleterious mutation. |
| 153006164 | c.1771C>T | p.Arg591Trp | exon 7 | Pathogenic, identified in 14 ALD cases (24, 32, 33, 53, 72, 161, 266, 274, 315, 316). Normal ALDP level in patient cells (53), but non-functional. |
| 153006165 | c.1772G>T | p.Arg591Leu | exon 7 | Pathogenic, identified in 3 ALD cases (88, 145). |
| 153006165 | c.1772G>C | p.Arg591Pro | exon 7 | Pathogenic, identified in 3 ALD cases (44, 49, 105). No detectable ALDP expression in patient cells (49). |
| 153006165 | c.1772G>A | p.Arg591Gln | exon 7 | Pathogenic, identified in 33 ALD cases (22, 33, 78, 98, 108, 145, 175, 191, 238, 245, 266, 274, 284, 294, 315). Normal ALDP level in patient cells (22, 33), but non-functional (33). |
| 153006173 | c.1780G>A | p.Gly594Ser | exon 7 | Pathogenic, identified in 5 ALD cases (277, 306). |
| 153006173 | c.1780G>C | p.Gly594Arg | exon 7 | Likely pathogenic, identified in a single ALD case (83). |
| 153006174 | c.1780+1G>A | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 2 ALD cases (7, 53). Deleterious mutation. |
| 153006175 | c.1780+2T>G | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 11 ALD cases (33, 38, 58, 71, 118, 158, 214, 266, 277). No detectable ALDP in patient cells (58) due to splicing defect (118). |
| 153006177 | c.1780+4G>A | IVS 7 | Benign, based on its frequency of 41/199340 in non-ALD alleles (323). | |
| 153008436 | c.1781-5C>G | IVS 7 | Likely benign, based on its frequency of 14/170857 in non-ALD alleles (323). | |
| 153008439 | c.1781-2A>G | p.Trp595fs*? | IVS 7 | Pathogenic, identified in 3 ALD cases (32, 33). Deleterious mutation. No detectable ALDP in patient cells (32). |
| 153008440 | c.1781-1G>A | p.Trp595fs*? | IVS 7 | Likely pathogenic, identified in a single ALD case (96). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008440 | c.1781-1G>C | p.Trp595fs*? | IVS 7 | Pathogenic, identified in a single ALD case (284) and 1x in ALD newborn screening (303). Affects ALDP function in fibroblasts (303). |
| 153008440 | c.1781-1G>T | p.Trp595fs*? | IVS 7 | Likely pathogenic, identified in 2 ALD case (33, 266). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008441 | c.1781G>T | p.Gly594Val | exon 8 | VUS, identified in ALD newborn screening (284), but has not yet been associated with disease. |
| 153008443 | c.1783T>C | p.Trp595Arg | exon 8 | Likely pathogenic, identified in a single ALD case (88). |
| 153008444 | c.1784G>A | p.Trp595* | exon 8 | Pathogenic, identified in 3 ALD cases (33, 90, 266). Deleterious mutation. |
| 153008445 | c.1785G>A | p.Trp595* | exon 8 | Pathogenic, identified in 5 ALD cases (24, 59, 64, 132, 232). Deleterious mutation. |
| 153008450 | c.1790C>G | p.Ala597Gly | exon 8 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153008451 | c.1791_92del | p.Met598Valfs*2 | exon 8 | Pathogenic, identified in a single ALD case (6). Deleterious mutation. No detectable ALDP in patient cells (58). |
| 153008452 | c.1792A>G | p.Met598Val | exon 8 | Benign, based on frequency 29/1196724 in non-ALD alleles (323). |
| 153008454 | c.1794G>T | p.Met598Ile | exon 8 | Benign, based on frequency 39/1197846 in non-ALD alleles (323). |
| 153008457 | c.1797dup | p.Asp600* | exon 8 | Pathogenic, identified in 2 ALD cases (219). Deleterious mutation. |
| 153008462 | c.1802G>A | p.Trp601* | exon 8 | Pathogenic, identified in 11 ALD cases (27, 33, 53, 79, 100, 154, 266, 324). Deleterious mutation. No detectable ALDP in patient cells (53). |
| 153008463 | c.1803del | p.Trp601* | exon 8 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 153008463 | c.1803G>A | p.Trp601* | exon 8 | Pathogenic, identified in 4 ALD cases (33, 77, 88, 231). Deleterious mutation. |
| 153008464 | c.1804A>T | p.Lys602* | exon 8 | Pathogenic, identified in a single ALD case (93). Deleterious mutation. |
| 153008467 | c.1807del | p.Asp603Thrfs*33 | exon 8 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008470 | c.1810G>A | p.Val604Ile | exon 8 | Benign, based on frequency of 460/1199988 in non-ALD alleles (323). |
| 153008471 | c.1811T>C | p.Val604Ala | exon 8 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 153008473 | c.1813_1831del | p.Leu605Argfs*25 | exon 8 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008474 | c.1814T>A | p.Leu605Gln | exon 8 | Pathogenic, identified in 4 ALD cases (59, 64, 132, 137). |
| 153008474 | c.1814T>C | p.Leu605Pro | exon 8 | Pathogenic, identified in 2 ALD cases (33, 325) and 1x in ALD NBS (284). Affects ALDP stability to below 5% in patient cells (325). |
| 153008476 | c.1816T>C | p.Ser606Pro | exon 8 | Pathogenic, identified in 7 ALD cases (7, 33, 71, 72, 96, 100). No detectable ALDP in patient cells (7) and deficient beta-oxidation (261). |
| 153008476 | c.1816T>G | p.Ser606Ala | exon 8 | Likely pathogenic, identified in a single ALD case (32). |
| 153008477 | c.1817C>A | p.Ser606* | exon 8 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008477 | c.1817C>T | p.Ser606Leu | exon 8 | Pathogenic, identified in 45 ALD cases (6, 13, 22, 24, 33, 46, 49, 52, 57, 58, 59, 60, 64, 97, 100, 132, 137, 178, 180, 204, 221, 266, 274, 284, 287, 289). Detectable ALDP by immunofluorescence (22, 33, 49, 60), but levels are reduced (25% of control cells) in patient cells (97, 325) using a quantitative immunoblot technique. Mutation affects ATP-binding capacity of ALDP (194, 244) and results in deficient beta-oxidation (261). |
| 153008480 | c.1820del | p.Gly607Valfs*29 | exon 8 | Pathogenic, identified in a single ALD case (6). Deleterious mutation. No detectable ALDP in patient cells (6). |
| 153008480 | c.1820_23del | p.Gly607Alafs*28 | exon 8 | Pathogenic, identified in 2 ALD cases (33, 266). Deleterious mutation. |
| 153008480 | c.1820G>A | p.Gly607Asp | exon 8 | Pathogenic, identified in 4 ALD cases (52, 58, 274). Normal ALDP level in patient cells, but non-functional (58). Mutation affects protein-protein interaction (262). |
| 153008482 | c.1822G>A | p.Gly608Ser | exon 8 | Pathogenic, identified in 3 ALD cases (58, 62, 105). |
| 153008483 | c.1823G>A | p.Gly608Asp | exon 8 | Likely pathogenic, identified in a single ALD case (48). |
| 153008485 | c.1825G>A | p.Glu609Lys | exon 8 | Pathogenic, identified in 45 ALD cases (15, 16, 32, 33, 49, 60, 62, 72, 88, 90, 97, 141, 146, 235, 266, 274, 306, 316, 328). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146). |
| 153008486 | c.1826A>G | p.Glu609Gly | exon 8 | Pathogenic, identified in 6 ALD cases (16, 32, 97, 141, 266, 326). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (32, 49, 60, 72, 141, 146). |
| 153008488 | c.1828A>G | p.Lys610Glu | exon 8 | Likely pathogenic, identified 3x in ALD newborn screening (274, 290). Affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153008491 | c.1831delC | p.Gln611Argfs*25 | exon 8 | Pathogenic, identified in a single ALD case (245). Deleterious mutation. |
| 153008492 | c.1832A>G | p.Gln611Arg | exon 8 | Pathogenic, identified in 2 ALD cases (315) and in ALD newborn screening (294). |
| 153008493 | c.1833G>C | p.Gln611His | exon 8 | Likely pathogenic, identified in a single ALD case (33). |
| 153008495 | c.1835del | p.Arg612Lysfs*24 | exon 8 | Pathogenic, identified in a single ALD case (328). Deleterious mutation |
| 153008498 | c.1838T>A | p.Ile613Asn | exon 8 | Likely pathogenic, identified in a single ALD case (33). |
| 153008503 | c.1843dup | p.Met615Asnfs*16 | exon 8 | Pathogenic, identified in a single ALD case (221). Deleterious mutation. |
| 153008500 | c.1840G>A | p.Gly614Ser | exon 8 | Benign, based on frequency 39/1196864 in non-ALD alleles (323). |
| 153008500 | c.1840G>C | p.Gly614Arg | exon 8 | Likely pathogenic, identified in a single ALD case (88). |
| 153008506 | c.1846G>A | p.Ala616Thr | exon 8 | Pathogenic, identified in 15 ALD cases (32, 97, 141, 218, 245,290). Reduced ALDP in patient cells (290) (4% of control cells) using a quantitative immunoblot technique (97), no detectable ALDP by immunofluorescence (32, 141). |
| 153008507 | c.1847C>A | p.Ala616Asp | exon 8 | Likely pathogenic, identified in a single ALD case (90). |
| 153008507 | c.1847C>T | p.Ala616Val | exon 8 | Pathogenic, identified in 2 ALD cases (29, 251), confirmed by biochemical testing (251). |
| 153008509 | c.1849C>A | p.Arg617Ser | exon 8 | Pathogenic, identified in 2 ALD cases (92, 289). |
| 153008509 | c.1849C>G | p.Arg617Gly | exon 8 | Pathogenic, identified in 12 ALD cases (15, 33, 59, 64, 67, 86, 93, 132, 137, 289, 292). |
| 153008509 | c.1849C>T | p.Arg617Cys | exon 8 | Pathogenic, identified in 50 ALD cases (6, 15, 16, 32, 33, 49, 58, 59, 60, 64, 86, 88, 93, 132, 137, 145, 178, 33, 214, 220, 221, 239, 263, 266, 289, 292, 318, 328). No detectable ALDP in patient cells (32, 49, 58). |
| 153008509 | c.1849del | p.Arg617Alafs*19 | exon 8 | Pathogenic, identified in a single ALD case (60). Deleterious mutation. No detectable ALDP in patient cells (60). |
| 153008510 | c.1850del | p.Arg617Profs*19 | exon 8 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008510 | c.1850G>A | p.Arg617His | exon 8 | Pathogenic, identified in 71 ALD cases (6, 13, 17, 22, 32, 33, 49, 57, 58, 60, 62, 74, 87, 88, 96, 100, 125, 145, 147, 154, 178, 235, 245, 246, 250, 266, 274, 289, 303, 306, 315, 319, 328, 332, 335). No detectable ALDP in patient cells (22, 33, 49, 58, 60, 147) and deficient beta-oxidation in patient cells (261). |
| 153008510 | c.1850G>C | p.Arg617Pro | exon 8 | Likely pathogenic, identified in a single ALD case (308). |
| 153008513 | c.1853del | p.Met618Serfs*18 | exon 8 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153008518 | c.1858T>C | p.Tyr620His | exon 8 | Pathogenic, identified in 2 ALD cases (88, 99). |
| 153008519 | c.1859del | p.Tyr620Serfs*16 | exon 8 | Pathogenic, identified in 2 ALD cases (80). Deleterious mutation. |
| 153008519 | c.1859A>G | p.Tyr620Cys | exon 8 | Pathogenic, identified in a single ALD case (58). No detectable ALDP in patient cells (58). |
| 153008520 | c.1860C>G | p.Tyr620* | exon 8 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008522 | c.1862A>T | p.His621Leu | exon 8 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008522 | c.1862dup | p.His621Glnfs*10 | exon 8 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008525 | c.1865_1865+3delinsTGTTCT | p.Arg622Metfs*16 | exon 8 / IVS 8 | Pathogenic, identified in a single ALD case (90). Deleterious mutation. |
| 153008526 | c.1865+1G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 2 ALD cases (33, 152). Reduced (<1% of control cells) ALDP in patient cells due to splicing defect (152). |
| 153008660 | c.1866-15G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 3 ALD cases (32, 245). |
| 153008665 | c.1866-10G>A | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 32 ALD cases (11, 30, 32, 33, 58, 72, 100, 125, 145, 156, 178, 191, 235, 245, 250, 274, 289, 290, 292). No detectable ALDP in patient cells (32, 58, 72) due to splicing defect (11, 30). |
| 153008673 | c.1866-2A>T | p.Pro623fs*? | IVS 8 | Pathogenic, identified in 5 ALD cases (32, 245, 250). No detectable ALDP in patient cells (291) due to splicing defect. |
| 153008676 | c.1867C>A | p.Pro623Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008677 | c.1868C>T | p.Pro623Leu | exon 9 | Likely pathogenic, identified in a single ALD case (100). |
| 153008684 | c.1875C>A | p.Tyr625* | exon 9 | Pathogenic, no clinical info presented, but deleterious mutation (266). |
| 153008685 | c.1876G>A | p.Ala626Thr | exon 9 | Pathogenic, identified in 28 ALD cases (22, 33, 49, 145, 196, 220, 259, 266, 274, 284, 295, 319). No detectable ALDP in patient cells (22, 33, 49, 234) and deficient beta-oxidation in patient cells (259). |
| 153008685 | c.1876G>T | p.Ala626Ser | exon 9 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008686 | c.1877C>A | p.Ala626Asp | exon 9 | Likely pathogenic, identified in a single ALD case (49). |
| 153008689 | c.1880T>A | p.Leu627His | exon 9 | Likely pathogenic, identified in a single ALD case (32). |
| 153008689 | c.1880dup | p.Leu628Profs*3 | exon 9 | Pathogenic, identified in a single ALD case (58). Deleterious mutation. |
| 153008692 | c.1883T>A | p.Leu628Gln | exon 9 | Likely pathogenic, identified in a single ALD case (100). |
| 153008692 | c.1883T>C | p.Leu628Pro | exon 9 | Pathogenic, identified in 3 ALD cases (33, 60). No detectable ALDP in patient cells (60). |
| 153008694 | c.1885G>A | p.Asp629Asn | exon 9 | Pathogenic, identified in 3 ALD cases (145, 165, 263). |
| 153008694 | c.1885G>C | p.Asp629His | exon 9 | Pathogenic, identified in a single ALD case (22). Normal ALDP level in patient cells (22), but non-functional. |
| 153008694 | c.1885G>T | p.Asp629Tyr | exon 9 | Likely pathogenic, identified in a single ALD case (289). |
| 153008696 | c.1887T>G | p.Asp629Glu | exon 9 | Likely pathogenic, identified in 2 ALD cases (254) |
| 153008697 | c.1888G>A | p.Glu630Lys | exon 9 | Pathogenic, identified in 2 ALD cases (33, 228). |
| 153008698 | c.1889A>G | p.Glu630Gly | exon 9 | Likely pathogenic, identified in a single ALD case (49). |
| 153008700 | c.1891T>C | p.Cys631Arg | exon 9 | Pathogenic, identified in 4 ALD cases (32, 33, 60). No detectable ALDP in patient cells (60). |
| 153008701 | c.1892G>A | p.Cys631Tyr | exon 9 | Pathogenic, identified in 7 ALD cases (33, 49, 76, 93, 266, 319). |
| 153008702 | c.1893C>G | p.Cys631Trp | exon 9 | Likely pathogenic, identified in a single ALD case (33). |
| 153008703 | c.1894A>C | p.Thr632Pro | exon 9 | Pathogenic, identified in 5 ALD cases (33, 96, 100, 120). |
| 153008703 | c.1894A>G | p.Thr632Ala | exon 9 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008704 | c.1895C>T | p.Thr632Ile | exon 9 | Pathogenic, identified in 14 ALD cases (33, 49, 147, 238, 266), confirmed by extensive pedigree analysis (147). |
| 153008707 | c.1898G>T | p.Ser633Ile | exon 9 | Likely pathogenic, identified in a single ALD case (48). |
| 153008708 | c.1899C>G | p.Ser633Arg | exon 9 | Pathogenic (same consequence as c.1899C>A), identified in a single ALD case (284). |
| 153008708 | c.1899delC | p.Ser633Argfs*3 | exon 9 | Pathogenic, identified in 5 ALD cases (141, 245, 250, 290). Deleterious mutation. No detectable ALDP in patient cells (141, 290). |
| 153008708 | c.1899C>A | p.Ser633Arg | exon 9 | Pathogenic, identified in 2 ALD cases (29, 96). |
| 153008709 | c.1900G>A | p.Ala634Thr | exon 9 | VUS, identified 6 times in ALD newborn screening (274, 284, 290, 295). Variant affects ALDP function in fibroblasts (290), but has not yet been associated with disease. |
| 153008712 | c.1903G>A | p.Val635Met | exon 9 | Conflicting results (therefore a VUS), identified in a single ALD case (49), 5x in ALD newborn screening (274, 284) and 2x in the gnomAD database (frequency 2/1207099 non-ALD alleles)(323). But, independent analysis reported normal C26:0-LPC in plasma (307). |
| 153008712 | c.1903_04insCCA | p.Val635delinsAlaMet | exon 9 | Pathogenic, identified in 2 ALD cases (72, 145). Affects ALDP stability in patient cells (72). |
| 153008715 | c.1906delA | p.Ser636Alafs*55 | exon 9 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008716 | c.1907_25del | p.Ser636Argfs*49 | exon 9 | Pathogenic, identified in 3 ALD cases (32). Deleterious mutation. |
| 153008716 | c.1907G>T | p.Ser636Ile | exon 9 | Pathogenic, identified in 4 ALD cases (27, 42, 266, 325). Affects ALDP in patient cells (42) to below 5% (325). |
| 153008718 | c.1909del | p.Ile637Serfs*54 | exon 9 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153008720 | c.1911_1920del | p.Ile637Metfs*51 | exon 9 | Pathogenic, identified in a single ALD case (289). Deleterious mutation. |
| 153008721 | c.1912G>T | p.Asp638Tyr | exon 9 | Pathogenic, identified in 3 ALD cases (38). |
| 153008724 | c.1915G>A | p.Val639Met | exon 9 | VUS, identified 2x in ALD newborn screening (274, 312) and reported 3x in the gnomAD database (323) frequency 3/1093249 in non-ALD alleles, but has not yet been associated with disease. |
| 153008727 | c.1918G>A | p.Glu640Lys | exon 9 | Pathogenic, identified in 5 ALD cases (33, 96, 235). |
| 153008735 | c.1926_27insCAAG | p.Ile643Glnfs*92 | exon 9 | Pathogenic, identified in a single ALD case (32). Deleterious mutation. |
| 153008737 | c.1928T>A | p.Ile643Asn | exon 9 | VUS, identified in ALD newborn screening (302), but has not yet been associated with disease. |
| 153008737 | c.1928T>C | p.Ile643Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008741 | c.1932C>A | p.Phe644Leu | exon 9 | VUS, identified in ALD newborn screening (312), but has not yet been associated with disease. |
| 153008742 | c.1933C>T | p.Gln645* | exon 9 | Pathogenic, identified in 3 ALD cases (22, 33). Deleterious mutation. No detectable ALDP in patient cells (22, 33). |
| 153008742 | c.1933del | p.Gln645Argfs*46 | exon 9 | Pathogenic, identified in 4 ALD cases (189, 266, 306). Deleterious mutation. |
| 153008742 | c.1933dup | p.Gln645Profs*89 | exon 9 | Pathogenic, identified in a single ALD case (284). Deleterious mutation. |
| 153008745 | c.1936G>C | p.Ala646Pro | exon 9 | Pathogenic, identified in 2 ALD cases (29, 33). |
| 153008746 | c.1937C>T | p.Ala646Val | exon 9 | VUS, identified in ALD newborn screening (274) and reported 5x in the gnomAD database (323) frequency 5/1198793 in non-ALD alleles (323), but has not yet been associated with disease. |
| 153008748 | c.1939_40insGG | p.Ala647Glyfs*45 | exon 9 | Pathogenic, identified in 4 ALD cases (71, 72). Deleterious mutation. No detectable ALDP in patient cells (72). |
| 153008751 | c.1942A>T | p.Lys648* | exon 9 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 153008757 | c.1948_49del | p.Ala650Glyfs*83 | exon 9 | Pathogenic, identified in a single ALD case (7). Deleterious mutation. No detectable ALDP in patient cells (7). |
| 153008764 | c.1955T>A | p.Ile652Asn | exon 9 | Likely pathogenic, identified in a single ALD case (328). |
| 153008770 | c.1961T>G | p.Leu654Arg | exon 9 | Pathogenic, identified in 2 ALD cases (33, 328). |
| 153008770 | c.1961T>C | p.Leu654Pro | exon 9 | Pathogenic, identified in 22 ALD cases (32, 49, 62, 97, 139, 141, 266, 290). Reduced ALDP in patient cells (290), (2% of control cells) ALDP in patient cells using a quantitative immunoblot technique (97), no detectable ALDP by immunofluorescence (32, 49, 139, 141). |
| 153008773 | c.1964T>C | p.Leu655Pro | exon 9 | Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53). |
| 153008775 | c.1966_1967dup | p.Ile657Profs*35 | exon 9 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008779 | c.1970T>C | p.Ile657Thr | exon 9 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008779 | c.1970_72del | p.Ile657del | exon 9 | Pathogenic, identified in 13 ALD cases (16, 32, 33, 111, 141, 185, 290). No detectable ALDP in patient cells (32, 141, 290). |
| 153008782 | c.1973C>T | p.Thr658Ile | exon 9 | Pathogenic, identified in 5 ALD cases (33, 58, 243, 284, 289). No detectable ALDP in patient cells (58). |
| 153008787 | c.1978C>T | p.Arg660Trp | exon 9 | Pathogenic, identified in 70 ALD cases (7, 13, 16, 22, 23, 24, 32, 33, 49, 53, 57, 58, 60, 88, 90, 97, 135, 141, 145, 146, 190, 191, 200, 218, 235, 243, 266, 277, 284, 292, 294, 306, 328). Reduced (2% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (7, 22, 23, 32, 33, 49, 53, 58, 141, 146). Mutation affects protein half-life (260) |
| 153008788 | c.1979G>A | p.Arg660Gln | exon 9 | Conflicting results. Reported as pathogenic (3 ALD cases) (71, 72) with no detectable ALDP in patient cells (72). But, an independent functional study in fibroblasts showed normal ALDP and normal biochemistry (290) and normal plasma VLCFA (290). |
| 153008788 | c.1979G>T | p.Arg660Leu | exon 9 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008788 | c.1979G>C | p.Arg660Pro | exon 9 | Pathogenic, identified in 3 ALD cases (48, 289, 332). |
| 153008791 | c.1982_83del | p.Pro661Leufs*72 | exon 9 | Pathogenic, identified in 2 ALD cases (32). Deleterious mutation. |
| 153008793 | c.1984T>C | p.Ser662Pro | exon 9 | Likely pathogenic, identified in a single ALD case (328). |
| 153008797 | c.1988T>A | p.Leu663Gln | exon 9 | Pathogenic, identified in 2 ALD cases (32, 58). Affects ALDP stability in patient cells (32, 58). |
| 153008797 | c.1988T>C | p.Leu663Pro | exon 9 | VUS, identified in ALD newborn screening (284) and 2 ClinVar entries (266), but has not yet been associated with disease. |
| 153008797 | c.1988_89insT | p.Trp664Valfs*70 | exon 9 | Pathogenic, identified in 2 ALD cases (33, 49). Deleterious mutation. No detectable ALDP in patient cells (33). |
| 153008800 | c.1991G>A | p.Trp664* | exon 9 | Pathogenic, identified in a single ALD case (248). Deleterious mutation. |
| 153008800 | c.1991_1991+13del | p.Trp664* | exon 9 | Pathogenic, identified in a single ALD case (274). Deleterious mutation. |
| 153008801 | c.1991+1G>A | p.Lys665fs*? | IVS 9 | Likely pathogenic, identified in a single ALD case (49). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008802 | c.1991+2T>C | p.Lys665fs*? | IVS 9 | Likely pathogenic, identified in a single ALD case (33). Should effect splicing and protein stability, but experimental proof was not provided. |
| 153008941 | c.1992-2A>G | p.Lys665fs*? | IVS 9 | Pathogenic, identified in 8 ALD cases (199, 245, 266, 274). Deleterious mutation. |
| 153008943 | c.1992G>A | p.Trp664* | exon 10 | Pathogenic, identified in 2 ALD cases (98, 252). Deleterious mutation. |
| 153008944 | c.1993_95delinsGAG | p.Lys665delinsGlu | exon 10 | Pathogenic, identified in a single ALD case (72). Affects ALDP stability in patient cells (72). |
| 153008948 | c.[1997A>C;2007C>G] | p.[Tyr666Ser;His669Gln] | exon 10 | VUS, identified in a single ALD case (62). Unclear which of the two variants is pathogenic. |
| 153008948 | c.1997A>G | p.Tyr666Cys | exon 10 | Likely pathogenic, identified in a single ALD case (328). |
| 153008949 | c.1998C>G | p.Tyr666* | exon 10 | Pathogenic, identified in 2 ALD cases (33, 289). Deleterious mutation. |
| 153008949 | c.1998C>A | p.Tyr666* | exon 10 | Pathogenic, identified in 2 ALD cases (266, 284). Deleterious mutation. |
| 153008949 | c.1998_1999insGC | p.His667Alafs*25 | exon 10 | Pathogenic, identified in a single ALD case (266). Deleterious mutation. |
| 153008950 | c.1999C>G | p.His667Asp | exon 10 | Pathogenic, identified in 6 ALD cases (49, 62, 90, 97, 284). Reduced (3% of control cells) ALDP in patient cells (97) using a quantitative immunoblot technique, no detectable ALDP by immunofluorescence (49). Mutation affects targeting to peroxisomes (261). |
| 153008950 | c.1999C>A | p.His667Asn | exon 10 | Likely pathogenic, identified in a single ALD case (232). |
| 153008950 | c.1999_2000delCA | p.His669Leufs*64 | exon 10 | Pathogenic, identified in a single ALD case (29). Deleterious mutation. |
| 153008951 | c.2000A>G | p.His667Arg | exon 10 | Likely pathogenic, identified in a single ALD case (328). |
| 153008951 | c.2000A>T | p.His667Leu | exon 10 | Pathogenic, identified in a single ALD case (53). Affects ALDP stability in patient cells (53). |
| 153008953 | c.[2002A>G;1021G>T] | p.[Thr668Ala;Ala341Ser] | exon 10 | Likely pathogenic, identified in a single ALD case (258). p.Ala341Ser is a likely benign variant (see above). |
| 153008953 | c.2002A>C | p.Thr668Pro | exon 10 | Pathogenic, identified in 10 ALD cases (33, 212, 266). |
| 153008954 | c.2003C>T | p.Thr668Ile | exon 10 | Pathogenic, identified in 3 ALD cases (33, 49, 266). No detectable ALDP in patient cells (49). |
| 153008956 | c.2005C>T | p.His669Tyr | exon 10 | Likely pathogenic, identified in a single ALD case (233). |
| 153008957 | c.2006_07del | p.His669Leufs*64 | exon 10 | Pathogenic, identified in 2 ALD cases (33, 274). Deleterious mutation. |
| 153008957 | c.2006A>T | p.His669Leu | exon 10 | VUS, identified in ALD newborn screening (274), but has not yet been associated with disease. |
| 153008957 | c.2006A>G | p.His669Arg | exon 10 | Pathogenic, identified in 11 ALD cases (33, 58, 104, 135, 145, 228, 266, 274, 297). No detectable ALDP in patient cells (58). |
| 153008957 | c.2006_2007del | p.His669Leufs*64 | exon 10 | Pathogenic, identified in a single ALD case (307). Deleterious mutation. |
| 153008957 | c.2006_2007dup | p.Leu670Thrfs*22 | exon 10 | Pathogenic, identified in ALD newborn screening (191). Deleterious mutation. |
| 153008958 | c.[2007C>G;1997A>C] | p.[His669Gln;Tyr666Ser] | exon 10 | VUS, identified in a single ALD case (62). Unclear which of the two variants is pathogenic. |
| 153008961 | c.2010_11insT | p.Leu671Serfs*63 | exon 10 | Pathogenic, identified in a single ALD case (33). Deleterious mutation. |
| 153008961 | c.2010_2014delinsTAT | p.Leu670Phefs*63 | exon 10 | Pathogenic, identified in 4 ALD cases (87, 272). Deleterious mutation. |
| 153008961 | c.2010dupG | p.Leu671Alafs*63 | exon 10 | Pathogenic, identified in 3 ALD cases (181, 284, 306). Deleterious mutation. |
| 153008962 | c.2011C>A | p.Leu671Ile | exon 10 | VUS, identified 3x in ALD newborn screening (274, 284), but has not yet been associated with disease. |
| 153008962 | c.2011C>G | p.Leu671Val | exon 10 | VUS, identified 2x in ALD newborn screening (284), but has not yet been associated with disease. |
| 153008963 | c.2012T>C | p.Leu671Pro | exon 10 | Likely pathogenic, identified in a single ALD case (255). |
| 153008964 | c.2013dup | p.Gln672Thrfs*62 | exon 10 | Pathogenic, identified in a single ALD case (271). Deleterious mutation. |
| 153008965 | c.2014C>T | p.Gln672* | exon 10 | Pathogenic, identified in 7 ALD cases (25, 27, 28, 33, 87, 88, 274). Deleterious mutation. No detectable ALDP in patient cells (25). |
| 153008971 | c.2020G>A | p.Asp674Asn | exon 10 | Likely benign based on frequency 12/1203361 in non-ALD alleles (323) |
| 153008974 | c.2023G>T | p.Gly675Trp | exon 10 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153008977 | c.2026G>T | p.Glu676* | exon 10 | Pathogenic, identified in 2 ALD cases (33). Deleterious mutation. |
| 153008981 | c.2030G>A | p.Gly677Asp | exon 10 | Pathogenic, identified in 2 ALD cases (96, 306). |
| 153008983 | c.2032G>A | p.Gly678Ser | exon 10 | Benign, based on frequency 59/1202517 in non-ALD alleles (323). |
| 153008983 | c.2032G>T | p.Gly678Cys | exon 10 | Benign, confirmed by biochemical testing (210). |
| 153008986 | c.2035T>C | p.Trp679Arg | exon 10 | Pathogenic, identified in 3 ALD cases (14, 88). |
| 153008986 | c.2035T>A | p.Trp679Arg | exon 10 | Pathogenic (same consequence as c.2035T>C), but no clinical info provided (266). |
| 153008987 | c.2036G>A | p.Trp679* | exon 10 | Pathogenic, identified in a single ALD case (84). Deleterious mutation. |
| 153008988 | c.2037G>A | p.Trp679* | exon 10 | Pathogenic, identified in 9 ALD cases (32, 33, 100, 154, 225, 266, 274). Deleterious mutation. |
| 153008994 | c.2043C>G | p.Phe681Leu | exon 10 | Likely benign, based on its frequency of 19/1201576 in non-ALD alleles (323). |
| 153008995 | c.2044G>C | p.Glu682Gln | exon 10 | Benign, based on its frequency of 225/1201370 in non-ALD alleles (323). |
| 153009002 | c.2051T>C | p.Leu684Pro | exon 10 | Pathogenic, identified in 2 ALD cases (33, 225, 301). |
| 153009012 | c.2061_2200del | p.Leu690Profs*65 | exon 10 | Likely pathogenic, identified in a single ALD case (32). |
| 153009016 | c.2065C>T | p.Arg689Cys | exon 10 | Benign, based on frequency of 82/1199175 in non-ALD alleles (323). |
| 153009029 | c.2078C>T | p.Thr693Met | exon 10 | Benign, identified in a single ALD case (49), but also with a frequency of 37/1085903 in non-ALD alleles (323). Normal ALDP level in fibroblasts (49). |
| 153009031 | c.2080G>A | p.Glu694Lys | exon 10 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153009038 | c.2087A>T | p.Lys696Met | exon 10 | Benign based on frequency 137/1197390 in non-ALD alleles (323). |
| 153009040 | c.2089C>A | p.Gln697Lys | exon 10 | Likely benign, based on frequency of 12/1083442 in non-ALD alleles (323). |
| 153009041 | c.2090A>G | p.Gln697Arg | exon 10 | Likely benign, based on frequency of 10/1082638 in non-ALD alleles (323). |
| 153009043 | c.2092C>T | p.Arg698Trp | exon 10 | Likely benign, based on frequency of 10/1082862 in non-ALD alleles (323). |
| 153009062 | c.2111C>T | p.Ala704Val | exon 10 | Likely benign, identified 3x in ALD newborn screening (274, 334) and reported 9x in the gnomAD database (323) frequency 9/1191935 in non-ALD alleles, but has not yet been associated with disease. |
| 153009083 | c.2132G>A | p.Arg711Gln | exon 10 | Likely benign, based on frequency of 13/1186133 in non-ALD alleles (323). |
| 153009085 | c.2134C>T | p.Arg712Cys | exon 10 | VUS, identified 4x in ALD newborn screening (274, 290), but also with a frequency 5/1073690 in non-ALD alleles (323). Normal VLCFA levels in fibroblasts (290) and mildly elevated C26:0-lysoPC levels in plasma (291), but has not yet been associated with disease. |
| 153009086 | c.2135G>A | p.Arg712His | exon 10 | VUS, identified 2x in ALD newborn screening (274, 294), but has not yet been associated with disease. |
| 153009086 | c.2135G>C | p.Arg712Pro | exon 10 | VUS, identified in ALD newborn screening (191), but has not yet been associated with disease. |
| 153009097 | c.2146C>T | p.Leu716Phe | exon 10 | Likely benign, based on frequency 9/1071314 in non-ALD alleles (323). |
| 153009115 | c.2164G>A | p.Glu722Lys | exon 10 | Benign based on frequency 28/1064242 in non-ALD alleles (323). |
| 153009124 | c.2173G>A | p.Ala725Thr | exon 10 | Likely benign, based on frequency of 12/1173516 in non-ALD alleles (323). |
| 153009131 | c.2180C>G | p.Ala727Gly | exon 10 | Benign based on frequency 37/1059553 in non-ALD alleles (323). |
| 153009136 | c.2185G>A | p.Val729Met | exon 10 | Likely benign, based on frequency of 12/1059270 in non-ALD alleles (323). |
| 153009140 | c.2189C>G | p.Pro730Arg | exon 10 | Likely benign based on frequency 15/1169981 in non-ALD alleles (323). |
| 153009140 | c.2189C>T | p.Pro730Leu | exon 10 | Likely benign based on frequency 13/1169980 in non-ALD alleles (323). |
| 153009152 | c.2201C>T | p.Pro734Leu | exon 10 | Benign, based on frequency 80/1168142 in non-ALD alleles (323). |
| 153009163 | c.2212G>C | p.Gly738Arg | exon 10 | Likely benign, based on frequency 15/116220 in non-ALD alleles (323). |
| 153009197 | c.2238*8G>C | 3′ UTR | Benign, based on its frequency of 81685/120445 in non-ALD alleles (323). |
Legend: Variants are arranged according to their nucleotide position on the X-chromosome. All variants, including those that have been published in the past, are annotated using Alamut software. The transcript NM_000033.3 on GRCh37 (hg19) is used as the reference sequence. The number of clinically/biochemically affected ALD cases that have been reported/identified for each variants is indicated. In case additional experimental proof with respect to the effect of the variant on the ALD protein (ALDP) or mRNA splicing is available references are provided. Note: unpublished variants (unpublished data) may not be used for publication purposes without prior approval from the editor of the database and the laboratories/investigators that have identified these variants.
Because ABCD1 pathogenic variants have no predictive value with respect to the clinical outcome of an individual patient no phenotypic information is provided. Instead we report cases. An ALD case is defined as an individual with clinical signs and symptoms related to ALD and a biochemical or genetic confirmation. Where available in the scientific literature, experimental data were extracted supporting the pathogenicity of a particular variant.
References
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Last modified | 2024-05-01